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GM01154
Fibroblast
Description:
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
Affected:
No Data
Sex:
Female
Age:
37
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
Publications
External Links
Images
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
Chromosome Abnormalities
Class
X Chromosome Markers
Cell Type
Fibroblast
Transformant
Untransformed
Race
White
Family Member
2
Relation to Proband
mother
Confirmation
Molecular characterization after cell line submission to CCR
ISCN
46,XX
Species
Homo
sapiens
Common Name
Human
Remarks
46,XX; double heterozygote; G6PD(med type) Xg(a)-/ G6PD(B) Xg(a)+; Sardinian; G6PD genotype is 563C>T (Ser188Phe{S188F})/ +
Characterizations
Passage Frozen
4
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(med type) Xg(a)-/ G6PD(B) Xg(a)+; Sardinian; 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
External Links
dbSNP
dbSNP ID: 18869
Gene Cards
G6PD
Gene Ontology
GO:0004345 glucose-6-phosphate 1-dehydrogenase activity
GO:0006010 glucose 6-phosphate utilization
GO:0006098 pentose-phosphate shunt
GO:0008372 cellular_component unknown
GO:0016491 oxidoreductase activity
NCBI Gene
Gene ID:2539
NCBI GTR
305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
OMIM
305900 GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
Omim Description
GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD
Images
View
pedigree
Culture Protocols
Passage Frozen
4
Split Ratio
1:3
Temperature
37 C
Percent CO2
5%
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:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
Add to Cart
How to Order
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