Cellosaurus cell line GM00441 (CVCL

Cellosaurus GM00441 (CVCL_L973)

Cross-references
Cell line name	GM00441
Synonyms	GM-441
Accession	CVCL_L973
Resource Identification Initiative	To cite this cell line use: GM00441 (RRID:CVCL_L973)
Comments	Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Homozygous (Coriell=GM00441).
Disease	Galactosemia (NCIt: C84723) Galactosemia (ORDO: Orphanet_352)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_L972 ! GM02412
Sex of cell	Male
Age at sampling	15Y
Category	Finite cell line
Publications	PubMed=181209; DOI=10.1159/000130689 Kaffe S., Beratis N.G., Hirschhorn K., Greene A.E., Coriell L.L. Galactosemia. Repository identification Nos. GM-438 to GM-442. Cytogenet. Cell Genet. 17:62-64(1976) 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)
Cell line collections (Providers)	Coriell; GM00441
Cell line databases/resources	CLO; CLO_0026119
Encyclopedic resources	Wikidata; Q54836227
Entry history
Entry creation	06-May-2013
Last entry update	19-Dec-2024
Version number	17