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Cellosaurus GM00441 (CVCL_L973)

[Text version]
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; 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)

Cross-references
Cell line collections (Providers) Coriell; GM00441
Cell line databases/resources CLO; CLO_0026119
Encyclopedic resources Wikidata; Q54836227
Entry history
Entry creation06-May-2013
Last entry update30-Jan-2024
Version number16