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Cellosaurus GM05008 (CVCL_GS68)

[Text version]
Cell line name GM05008
Synonyms GM05008A
Accession CVCL_GS68
Resource Identification Initiative To cite this cell line use: GM05008 (RRID:CVCL_GS68)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 3647; FECH; Simple; p.Phe417Ser (c.1250T>C); ClinVar=VCV000000551; Zygosity=Homozygous (PubMed=1376018).
Disease Erythropoietic protoporphyria (NCIt: C84698)
Autosomal erythropoietic protoporphyria (ORDO: Orphanet_79278)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 26Y
Category Finite cell line
Publications

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)

PubMed=1376018; PMCID=PMC1682545
Brenner D.A., Didier J.M., Frasier F., Christensen S.R., Evans G.A., Dailey H.A.
A molecular defect in human protoporphyria.
Am. J. Hum. Genet. 50:1203-1210(1992)

Cross-references
Cell line collections (Providers) Coriell; GM05008
Cell line databases/resources CLO; CLO_0025672
Encyclopedic resources Wikidata; Q54838807
Entry history
Entry creation26-Sep-2016
Last entry update29-Jun-2023
Version number8