GM01109

GM01109 Fibroblast

Description:

TAY-SACHS DISEASE; TSD

Affected:

No Data

Sex:

Male

Age:

31 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Lysosomal Storage Diseases

Class

Disorders of Lipid Metabolism

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Ethnicity

PENNSYLVANIA DUTCH

Family Member

Relation to Proband

father

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Non-Jewish; clinically unaffected father of GM01110

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Non-Jewish; clinically unaffected father of GM01110

External Links

dbSNP

dbSNP ID: 18184

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

Images

View

pedigree

Culture Protocols

Passage Frozen

Split Ratio

1:3

Temperature

37 C

Percent CO2

Medium

Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not inactivated

Substrate

None specified

Subcultivation Method

trypsin-EDTA

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD