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Cellosaurus GM00325 (CVCL_4J10)

[Text version]
Cell line name GM00325
Synonyms GM-325
Accession CVCL_4J10
Resource Identification Initiative To cite this cell line use: GM00325 (RRID:CVCL_4J10)
Comments Population: Caucasian; Sardinian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4057; G6PD; Simple; p.Ser188Phe (c.653C>T); ClinVar=VCV000100057; Zygosity=Hemizygous (PubMed=7803800).
Disease Glucose-6-phosphate dehydrogenase deficiency (NCIt: C98933)
Class I glucose-6-phosphate dehydrogenase deficiency (ORDO: Orphanet_466026)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 30Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=7803800; DOI=10.1182/blood.V85.1.257.bloodjournal851257
Xu W.-M., Westwood B., Bartsocas C.S., Malcorra-Azpiazu J.J., Indrak K., Beutler E.
Glucose-6 phosphate dehydrogenase mutations and haplotypes in various ethnic groups.
Blood 85:257-263(1995)

Cross-references
Cell line collections (Providers) Coriell; GM00325
Cell line databases/resources CLO; CLO_0025535
Encyclopedic resources Wikidata; Q54836162
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number13