GM23162

GM23162 Fibroblast from Skin, Unspecified

Description:

NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1

Affected:

Yes

Sex:

Female

Age:

1 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Lysosomal Storage Diseases

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Unspecified

Race

White

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; deceased; profound failure to thrive; hepatosplenomegaly; developmental delay; 0% of normal cholesterol esterification and positive filipin stain; affected identical twin sister is also deceased; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 125 in exon 2 of the NPC1 gene (c.125G>A) resulting in the substitution of tyrosine for cysteine at codon 42 [Cys42Tyr(C42Y)]; the second allele has a G>A transition at nucleotide 2842 in exon 19 (c.2842G>A) resulting in the substitution of asparagine for aspartic acid at codon 948 [Asp948Asn (D948N)]; This fibroblast is a characteristically poor grower and will only be shipped frozen; requires particular care during growth; the recommended seeding density is 15,000 to 20,000 cells per cm2.