Gene Mutation Sample List

Catalog ID	Description	Allele 1	Allele 2	Cell Type	Sex	Age	Race	Affected
CD00023	5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR				Female	42 YR
CD00024	5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR				Female	28 YR
CD00025	5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR				Female	17 YR
GM03756	DYSTROPHIA MYOTONICA 1; DM1	500		B-Lymphocyte	Male	44 YR	White	Yes
GM06160	APPARENTLY HEALTHY INDIVIDUAL	WT	WT	B-Lymphocyte	Male	25 YR	White	No
GM07441	CYSTIC FIBROSIS; CF	7T	9T	B-Lymphocyte	Female	20 YR	Black/African American	Yes
GM08369	HEMOPHILIA B; HEMB	No Mutation Detected	No Mutation Detected	B-Lymphocyte	Male	17 YR	White	Yes
GM13591	CYSTIC FIBROSIS; CF	5T	9T	B-Lymphocyte	Female	32 YR	White	Yes
GM16000	COAGULATION FACTOR II; F2			B-Lymphocyte	Female	33 YR	White	Yes
GM16028	COAGULATION FACTOR II; F2			B-Lymphocyte	Female	64 YR	White
GM20730	5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR			B-Lymphocyte	Female	44 YR		Unknown
GM20746	5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR			B-Lymphocyte	Female	34 YR		Yes
GM27171	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1			B-Lymphocyte	Female	43 YR	White	Yes
GM27393	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1; CADASIL1			Fibroblast	Female	44 YR	White	Yes