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Cellosaurus GM00054 (CVCL_D342)

[Text version]
Cell line name GM00054
Synonyms GM-54; GM54; GM0054
Accession CVCL_D342
Resource Identification Initiative To cite this cell line use: GM00054 (RRID:CVCL_D342)
Comments 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.Val44Met (c.130G>A); ClinVar=VCV000003611; Zygosity=Heterozygous (from autologous cell line GM02795).
  • Mutation; HGNC; 4135; GALT; Simple; p.Met142Lys (c.425T>A); ClinVar=VCV000003609; Zygosity=Heterozygous (from autologous cell line GM02795).
Disease Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_7298 (GM00638)
Originate from same individual CVCL_F026 ! GM01907
CVCL_F027 ! GM02795
Sex of cell Male
Age at sampling 3M
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)

PubMed=694721; DOI=10.1007/BF01542843
Chen Y.-T., Worthy T.E., Krooth R.S.
Evidence for a striking increase in acetylcholinesterase activity in cultured human fibroblasts which are trisomic for chromosome two.
Somatic Cell Genet. 4:265-298(1978)

PubMed=6256643; DOI=10.1038/288724a0
Day R.S. III, Ziolkowski C.H.J., Scudiero D.A., Meyer S.A., Lubiniecki A.S., Girardi A.J., Galloway S.M., Bynum G.D.
Defective repair of alkylated DNA by human tumour and SV40-transformed human cell strains.
Nature 288:724-727(1980)

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; GM00054
Cell line databases/resources CLO; CLO_0025177
Biological sample resources BioSample; SAMN00794772
Encyclopedic resources Wikidata; Q54836006
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number20