| A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | Study ID | Sex | Age | Subject Diagnosis | Gene | Variant | BSI ID | Date Received | Anatomic Site | Anatomic Site Detail | Material Type | Vial Type | Volume Unit | Cell Count (x10^6) | Suspension/Solvent | |
2 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0001 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
3 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0002 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
4 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0003 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
5 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0004 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
6 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0005 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
7 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0006 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
8 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0007 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
9 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0008 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
10 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0009 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
11 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0010 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
12 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0011 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
13 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0012 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
14 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0013 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
15 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0014 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
16 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0015 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
17 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0016 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
18 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0017 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
19 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0018 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
20 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0019 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
21 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0020 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
22 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0021 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
23 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000253 0022 | 1/17/2023 | Cells | iPSC | iPSCs | Glass Ampule | ||||
24 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0001 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
25 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0002 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
26 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0003 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
27 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0004 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
28 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0005 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
29 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0006 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
30 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0007 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
31 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0008 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
32 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0009 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
33 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0010 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
34 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0011 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
35 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0012 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
36 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0013 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
37 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0014 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
38 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0015 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
39 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0016 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
40 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0017 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
41 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0018 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
42 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0019 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
43 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0020 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
44 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0021 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
45 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0022 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
46 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0023 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
47 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0024 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
48 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0025 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
49 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0026 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
50 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0027 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
51 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0028 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
52 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0029 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
53 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0030 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
54 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0031 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
55 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0032 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
56 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0033 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
57 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0034 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
58 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0035 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
59 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000254 0036 | 1/17/2023 | Unknown | Fibroblasts | Fibroblasts | Glass Ampule | ||||
60 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB000404 0001 | 1/18/2023 | Whole Blood | PBMC | 2.0 mL Cryovial | |||||
61 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB001590 0001 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
62 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB001590 0002 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
63 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB001590 0003 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
64 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB001590 0004 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
65 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.2496_2499delTAAA | CBB001591 0001 | 11/2/2022 | Whole Blood | Serum | 2.0 mL Cryovial | |||||
66 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001608 0001 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
67 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001608 0002 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
68 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001608 0003 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
69 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001608 0004 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
70 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001608 0005 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
71 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001608 0006 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
72 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001608 0007 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
73 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001608 0008 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
74 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001609 0001 | 11/2/2022 | Whole Blood | Serum | 2.0 mL Cryovial | |||||
75 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001609 0002 | 11/2/2022 | Whole Blood | Serum | 2.0 mL Cryovial | |||||
76 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001609 0003 | 11/2/2022 | Whole Blood | Serum | 2.0 mL Cryovial | |||||
77 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001609 0004 | 11/2/2022 | Whole Blood | Serum | 2.0 mL Cryovial | |||||
78 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001609 0005 | 11/2/2022 | Whole Blood | Serum | 2.0 mL Cryovial | |||||
79 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001609 0006 | 11/2/2022 | Whole Blood | Serum | 2.0 mL Cryovial | |||||
80 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001609 0007 | 11/2/2022 | Whole Blood | Serum | 2.0 mL Cryovial | |||||
81 | COMBINEDBrain | Male | 10 | ADNP-Related Disorder | ADNP | c.539_542delTTAG; p.V180Gfs*17 | CBB001609 0008 | 11/2/2022 | Whole Blood | Serum | 2.0 mL Cryovial | |||||
82 | COMBINEDBrain | Male | 14 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000124 0013 | 10/26/2022 | Whole Blood | PBMC | 1.2 mL Cryovial | mL | 2 | Cryostor | ||
83 | COMBINEDBrain | Male | 14 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000124 0014 | 10/26/2022 | Whole Blood | PBMC | 1.2 mL Cryovial | mL | 1.71 | Cryostor | ||
84 | COMBINEDBrain | Male | 14 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000653 0000 | 1/18/2023 | Whole Blood | PBMC | 2.0 mL Cryovial | |||||
85 | COMBINEDBrain | Male | 15 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000764 0011 | 3/14/2023 | Whole Blood | PBMC | 1.2 mL Cryovial | mL | 2 | Cryostor | ||
86 | COMBINEDBrain | Male | 15 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000764 0012 | 3/14/2023 | Whole Blood | PBMC | 1.2 mL Cryovial | mL | 2 | Cryostor | ||
87 | COMBINEDBrain | Male | 15 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000764 0013 | 3/14/2023 | Whole Blood | PBMC | 1.2 mL Cryovial | mL | 2 | Cryostor | ||
88 | COMBINEDBrain | Male | 15 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000764 0014 | 3/14/2023 | Whole Blood | PBMC | 1.2 mL Cryovial | mL | 0.94 | Cryostor | ||
89 | COMBINEDBrain | Male | 15 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000765 0041 | 3/14/2023 | Whole Blood | Plasma | 1.2 mL Cryovial | µL | ||||
90 | COMBINEDBrain | Male | 15 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000765 0055 | 3/14/2023 | Whole Blood | WBC - Buffy Coat | 1.5 mL Microtube | 2 | None | |||
91 | COMBINEDBrain | Male | 15 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000765 0056 | 3/14/2023 | Whole Blood | WBC - Buffy Coat | 1.5 mL Microtube | 2 | None | |||
92 | COMBINEDBrain | Male | 15 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000765 0057 | 3/14/2023 | Whole Blood | WBC - Buffy Coat | 1.5 mL Microtube | 2 | None | |||
93 | COMBINEDBrain | Male | 15 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000765 0058 | 3/14/2023 | Whole Blood | WBC - Buffy Coat | 1.5 mL Microtube | 2 | None | |||
94 | COMBINEDBrain | Male | 15 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000765 0059 | 3/14/2023 | Whole Blood | WBC - Buffy Coat | 1.5 mL Microtube | 2 | None | |||
95 | COMBINEDBrain | Male | 15 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000765 0060 | 3/14/2023 | Whole Blood | WBC - Buffy Coat | 1.5 mL Microtube | 5.75 | None | |||
96 | COMBINEDBrain | Male | 14 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB000887 0000 | 5/26/2023 | Skin | FibroBlasts | Fibroblasts | Glass Ampule | ||||
97 | COMBINEDBrain | Male | 14 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB001545 0001 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
98 | COMBINEDBrain | Male | 14 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB001545 0002 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
99 | COMBINEDBrain | Male | 14 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB001545 0003 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial | |||||
100 | COMBINEDBrain | Male | 14 | ADNP-Related Disorder | ADNP | c.1046_1047delTG; p.L349Rfs*49 | CBB001545 0004 | 11/2/2022 | Whole Blood | Plasma | 2.0 mL Cryovial |