GM00337

GM00337 Fibroblast

Description:

ADRENOLEUKODYSTROPHY; ALD

Affected:

No Data

Sex:

Female

Age:

35 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Steroid Metabolism

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Family Member

Relation to Proband

parent

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Mother of an affected child; proband not in Repository

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Phenotypic Data

Remarks

Mother of an affected child; proband not in Repository

External Links

dbSNP

dbSNP ID: 18404

Gene Cards

ALD

NCBI GTR

300100 ADRENOLEUKODYSTROPHY; ALD

OMIM

300100 ADRENOLEUKODYSTROPHY; ALD

Omim Description

ADDISON DISEASE AND CEREBRAL SCLEROSIS

ADRENOLEUKODYSTROPHY; ALD

ADRENOMYELONEUROPATHY; AMN

BRONZE SCHILDER'S DISEASE

MELANODERMIC LEUKODYSTROPHYADRENOLEUKODYSTROPHY PROTEIN, INCLUDED; ALDP, INCLUDED

SIEMERLING-CREUTZFELDT DISEASE

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:

$373.00USD

Academic/Non-profit/Government:

$216.00USD