Gene Mutation Sample List

Coriell Institute for Medical Research

Gene Sample List

Please click on the Excel icon at the upper right to obtain an excel file of the detailed Clinical Data Elements (phenotypic characterizations) for these samples.

Records Return: (8)

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Catalog ID	Description	Cell Type	Sex	Age	Race	Affected
GM00232	SPINAL MUSCULAR ATROPHY I; SMA1	Fibroblast	Male	7 MO	White	Yes
GM03813	SPINAL MUSCULAR ATROPHY, TYPE II; SMA2	Fibroblast	Male	3 YR	White	Yes
GM03814	SPINAL MUSCULAR ATROPHY, TYPE II; SMA2	Fibroblast	Female		White	No
GM09677	SPINAL MUSCULAR ATROPHY I; SMA1	Fibroblast	Male	2 YR	White	Yes
GM10684	SPINAL MUSCULAR ATROPHY I; SMA1	B-Lymphocyte	Female	6 MO	White	Yes
GM23240	SPINAL MUSCULAR ATROPHY, TYPE II; SMA2	Stem cell	Male	3 YR	White	Yes
GM24468	SPINAL MUSCULAR ATROPHY, TYPE II; SMA2	Stem cell	Male	3 YR	White	Yes
GM24474	SPINAL MUSCULAR ATROPHY, TYPE II; SMA2	Stem cell	Female		White	No

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