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Cellosaurus GM01908 (CVCL_F483)

[Text version]
Cell line name GM01908
Synonyms GM-1908
Accession CVCL_F483
Resource Identification Initiative To cite this cell line use: GM01908 (RRID:CVCL_F483)
Comments Population: African American.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4135; GALT; Simple; p.Ser135Leu (c.404C>T); ClinVar=VCV000003618; Zygosity=Heterozygous (from autologous cell line GM02796).
  • Mutation; HGNC; 4135; GALT; Simple; p.Phe171Ser (c.512T>C); ClinVar=VCV000003616; Zygosity=Heterozygous (from autologous cell line GM02796).
Disease Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_2779 ! CHP 4 (W.W.)
CVCL_F484 ! GM02796
Sex of cell Male
Age at sampling 15Y
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

Cross-references
Cell line collections (Providers) Coriell; GM01908
Cell line databases/resources CLO; CLO_0032374
Biological sample resources BioSample; SAMN00807298
Encyclopedic resources Wikidata; Q54837175
Entry history
Entry creation11-Feb-2013
Last entry update29-Jun-2023
Version number19