Cellosaurus cell line GM00334 (CVCL

Cellosaurus GM00334 (CVCL_W232)

Cross-references
Cell line name	GM00334
Synonyms	GM-334; GM00334A
Accession	CVCL_W232
Resource Identification Initiative	To cite this cell line use: GM00334 (RRID:CVCL_W232)
Comments	Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:4118; GALK1; Simple; p.Val32Met (c.94G>A); ClinVar=VCV000005628; Zygosity=Homozygous (PubMed=7670469).
Disease	Galactokinase deficiency (NCIt: C114767) Galactokinase deficiency (ORDO: Orphanet_79237)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	22Y
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=7670469; DOI=10.1038/ng0795-307 Stambolian D.E., Ai Y.-J., Sidjanin D., Nesburn K., Sathe G., Rosenberg M., Bergsma D.J. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nat. Genet. 10:307-312(1995)
Cell line collections (Providers)	Coriell; GM00334
Cell line databases/resources	CLO; CLO_0025532
Encyclopedic resources	Wikidata; Q54836168
Entry history
Entry creation	16-Apr-2014
Last entry update	19-Dec-2024
Version number	14