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Cellosaurus GM07077 (CVCL_4J57)

[Text version]
Cell line name GM07077
Accession CVCL_4J57
Resource Identification Initiative To cite this cell line use: GM07077 (RRID:CVCL_4J57)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4982; HMBS; Simple; p.Arg116Trp (c.346C>T); ClinVar=VCV000001445; Zygosity=Heterozygous (Coriell=GM07077).
Disease Acute intermittent porphyria (NCIt: C84536)
Acute intermittent porphyria (ORDO: Orphanet_79276)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 32Y
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) 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; GM07077
Cell line databases/resources CLO; CLO_0036830
Encyclopedic resources Wikidata; Q54842524
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number12