GM02716

GM02716 Fibroblast

Description:

ANDROGEN INSENSITIVITY SYNDROME; AIS

Affected:

Yes

Sex:

Female

Age:

14 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Steroid Metabolism

Cell Type

Fibroblast

Tissue Type

Epididymus

Transformant

Untransformed

Race

White

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,XY

Species

Homo sapiens

Common Name

Human

Remarks

Epididymus tissue; 46,XY; same patient as GM02715 and 02717

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis

Phenotypic Data

Remarks

Epididymus tissue; 46,XY; same patient as GM02715 and 02717

External Links

dbSNP

dbSNP ID: 18130

NCBI GTR

300068 ANDROGEN INSENSITIVITY SYNDROME; AIS

OMIM

300068 ANDROGEN INSENSITIVITY SYNDROME; AIS

Omim Description

ANDROGEN INSENSITIVITY SYNDROME; AIS

ANDROGEN RECEPTOR DEFICIENCY; AR DEFICIENCY

DHTR DEFICIENCY

DIHYDROTESTOSTERONE RECEPTOR DEFICIENCY

TESTICULAR FEMINIZATION SYNDROME; TFM

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