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
GM22227	NIEMANN-PICK DISEASE, TYPE C1; NPC1	B-Lymphocyte	Female	4 YR	White	Yes
GM22256	NIEMANN-PICK DISEASE, TYPE C1; NPC1	B-Lymphocyte	Female	4 YR	White	Yes
GM22566	NIEMANN-PICK DISEASE, TYPE C1; NPC1	B-Lymphocyte	Female	39 YR	White	No
GM22568	NIEMANN-PICK DISEASE, TYPE C1; NPC1	B-Lymphocyte	Female	67 YR	White	No
GM22870	NIEMANN-PICK DISEASE, TYPE C1; NPC1	Fibroblast	Female	4 YR	White	Yes
GM22871	NIEMANN-PICK DISEASE, TYPE C1; NPC1	Fibroblast	Female	4 YR	White	Yes
GM23151	NIEMANN-PICK DISEASE, TYPE C1; NPC1	Fibroblast	Female	39 YR	White	No
GM23945	NIEMANN-PICK DISEASE, TYPE C1; NPC1	Fibroblast	Female	71 YR	White	No

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