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Cellosaurus GM01417 (CVCL_1Y25)

[Text version]
Cell line name GM01417
Synonyms GM-1417
Accession CVCL_1Y25
Resource Identification Initiative To cite this cell line use: GM01417 (RRID:CVCL_1Y25)
Comments Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Homozygous (Coriell=GM01417).
Disease Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352)
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)

Cross-references
Cell line collections (Providers) Coriell; GM01417
Cell line databases/resources CLO; CLO_0030787
Encyclopedic resources Wikidata; Q54836817
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number14