GM17312

GM17312 Fibroblast

Description:

HUMAN VARIATION PANEL - SOUTH AMERICA (GUYANA, AND VENEZUELA)
CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9
SNP500 PANEL

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Human Variation
Pharmacogenetics

Alternate IDs

GM02859 [HUMAN VARIATION PANEL - SOUTH AMERICA (GUYANA, AND VENEZUELA)]

Cell Type

Fibroblast

Transformant

Untransformed

Species

Homo sapiens

Common Name

Human

Remarks

donor subject is heterozygous for a C>T change at nucleotide 416 (416C>T) in exon 3 of the CYP2C9 gene (CYP2C9*2) which results in a substitution of cysteine for arginine at codon 144 [Arg144Cys (R144C)]

Characterizations

PDL at Freeze

5.41

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by LINE assay

Phenotypic Data

Remarks

External Links

dbSNP

dbSNP ID: 12563

Gene Cards

CYP2C9

Gene Ontology

GO:0004497 monooxygenase activity

GO:0005783 endoplasmic reticulum

GO:0005792 microsome

GO:0006118 electron transport

GO:0016020 membrane

GO:0018676 (S)-limonene 7-monooxygenase activity

NCBI Gene

Gene ID:1559

NCBI GTR

601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9

OMIM

601130 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 9; CYP2C9

Culture Protocols

Passage Frozen

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

Substrate

None specified

Supplement

Pricing

Commercial/For-profit:

$311.00USD

Academic/Non-profit/Government:

$176.00USD