GM01165

GM01165 Fibroblast

Description:

GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD

Affected:

No Data

Sex:

Female

Age:

37 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Chromosome Abnormalities

Class

X Chromosome Markers

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Relation to Proband

proband

Confirmation

Molecular characterization after cell line submission to CCR

ISCN

46,XX

Species

Homo sapiens

Common Name

Human

Remarks

46,XX; double heterozygote G6PD(B) Xg(a)-/G6PD(med) Xg(a)+; G6PD genotype is 563C>T (Ser188Phe{S188F})/+

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

G6PD

Chromosomal Location

Xq28

Allelic Variant 1

305900.0006; G6PD MEDITERRANEAN

Identified Mutation

SER188PHE; A change from cytosine to thymine at base position 563 in exon 6 causes a change from serine to phenylalanine in amino acid position 188. This mutation is also referred to as the G6PD Mediterranean-563T mutation.

Phenotypic Data

Remarks

46,XX; double heterozygote G6PD(B) Xg(a)-/G6PD(med) Xg(a)+; G6PD genotype is 563C>T (Ser188Phe{S188F})/+

Publications

Xu, W., Westwood, B., Bartsocas, C.S., Malcorra-Azpiazu, J.J., Indrak, K., and Beutler, E., Glucose-6 Phosphate Dehydrogenase Mutations and Haplotypes in Various Ethnic Groups Blood85(1):257-263 1995

PubMed ID: 7803800