Cellosaurus cell line GM05008 (CVCL

Cross-references
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; 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)
Cell line collections (Providers)	Coriell; GM05008
Cell line databases/resources	CLO; CLO_0025672
Encyclopedic resources	Wikidata; Q54838807
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	9