Cellosaurus cell line GM01193 (CVCL

Cellosaurus GM01193 (CVCL_4J31)

Cross-references
Cell line name	GM01193
Synonyms	GM-1193
Accession	CVCL_4J31
Resource Identification Initiative	To cite this cell line use: GM01193 (RRID:CVCL_4J31)
Comments	Population: Caucasian; Sardinian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:4057; G6PD; Simple; p.Ser188Phe (c.653C>T); ClinVar=VCV000100057; Zygosity=Homozygous (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	Female
Age at sampling	50Y
Category	Finite cell line
Publications	DOI=10.5962/bhl.title.4090 Lewis Lemon Coriell, Arthur E. Greene; 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 Richard A. Mulivor, Sharon F. Suchy; 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 Wei-Ming Xu, Beryl Westwood, Christos Spyros Bartsocas, Juan Jose Malcorra-Azpiazu, Karel Indrak, Ernest Beutler; Glucose-6 phosphate dehydrogenase mutations and haplotypes in various ethnic groups. Blood 85:257-263(1995)
Cell line collections (Providers)	Coriell; GM01193
Cell line databases/resources	CLO; CLO_0030267
Biological sample resources	BioSample; SAMN00803698
Encyclopedic resources	Wikidata; Q54836695
Entry history
Entry creation	22-Sep-2015
Last entry update	19-Dec-2024
Version number	14