GM00800

GM00800 Fibroblast

Description:

HURLER SYNDROME

Affected:

No Data

Sex:

Male

Age:

27 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Lysosomal Storage Diseases

Class

Disorders of Carbohydrate Metabolism

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Family Member

Relation to Proband

father

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically unaffected father of affected child GM00798 (fibroblast) and GM26656 (stem cell); child is homozygous for a TGG>TAG change at nucleotide 1293 in exon 9 of the IDUA gene [Trp402Ter (W402X)]; GM00798 (fibroblast) at passage 3 when entered repository; unaffected mother of affected child is GM00799 (fibroblast).

Characterizations

PDL at Freeze

3.96

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

External Links

dbSNP

dbSNP ID: 15360

NCBI GTR

607014 HURLER SYNDROME

OMIM

607014 HURLER SYNDROME

Omim Description

HURLER SYNDROME

Images

View

pedigree

Culture Protocols

Split Ratio

1:3

Temperature

37 C

Percent CO2

Percent O2

AMBIENT

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

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD