NA13204

NA13204 DNA from Fibroblast

Description:

TAY-SACHS DISEASE; TSD

Affected:

Yes

Sex:

Female

Age:

45 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Lysosomal Storage Diseases

Quantity

10 µg

Quantitation Method

Please see our FAQ

Sample Source

DNA from Fibroblast

Relation to Proband

proband

Confirmation

Biochemical characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Adult onset; deficient hexosaminidase A activity in plasma and fibroblasts; donor subject is a compound heterozygote: one allele has a 4 bp insertion at nucleotide 1278 in exon 11 of the HEXA gene (c.1278insTATC); the second allele has a G>A substitution at nucleotide 805 in exon 7 (c.805G>A) resulting in a substitution of serine for glycine at codon 269 [Gly269Ser (G269S)]

Phenotypic Data

Remarks

External Links

NCBI GTR

272800 TAY-SACHS DISEASE; TSD

OMIM

272800 TAY-SACHS DISEASE; TSD

Omim Description

B VARIANT GM2 GANGLIOSIDOSIS

GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED

GM2-GANGLIOSIDOSIS, TYPE I

HEXA DEFICIENCYHEXOSAMINIDASE A, INCLUDED; HEXA, INCLUDED

HEXOSAMINIDASE A DEFICIENCY

HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED

TAY-SACHS DISEASE, JUVENILE, INCLUDED

TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED

TAY-SACHS DISEASE, VARIANT B1, INCLUDED

TAY-SACHS DISEASE; TSD

Culture Protocols

Supplement

Pricing

Commercial/For-profit:

$225.00USD

Academic/Non-profit/Government:

$113.00USD