GLUT1 Deficiency patient derived iPSC cell lines info for website.xlsx

	A	B	C	D	E	F	G
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3	GLUT1 Deficiency patient derived iPSC Cell lines
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5	Variant
6	Identified mutation	Biorepository	Isogenic control	Structure model	Relevant publication	Age at time of collection	Sex
7	c.1454 C>T; p.P485L	Coriell	Available at Coriell	Not available *	Publication *	19 YR	Female
8	c.376C>T; p.R126C	COMBINEDBrain	Not available	Model	Publication	13 YR	Female
9	c.-490G>C, c.19-187C>A, and c.1216_1220delGTTGC; p.V406Rfs*47	COMBINEDBrain	Not available	Model	Not available	26 YR	Male
10	c.1108G>A; p.V370M	COMBINEDBrain	Not available	Model	Not available	10 YR	Female
11	Deletion (entire coding sequence)	COMBINEDBrain	Not available	Not available	Not available	4 YR	Female
12	Parental control for c.-490G>C, c.19-187C>A, and c.1216_1220delGTTGC; p.V406Rfs*47	COMBINEDBrain	Not available	Not available	N/A	59 YR	Female
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17	*unique identifier
18	* P485 is at the C-terminus of GLUT1, which is a flexible region and was not determined in the crystal structure.
19	Structure models were made based on the crystal structure, flexible regions of a protein are usually missing from the
20	X-ray experimental data due to its disordered nature, so p.P485L can’t be shown in this model.
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22	* This patient's iPSC cells were developed and used in this publication
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