Cellosaurus logo
expasy logo

Cellosaurus GM01623 (CVCL_4J34)

[Text version]
Cell line name GM01623
Synonyms GM-1623
Accession CVCL_4J34
Resource Identification Initiative To cite this cell line use: GM01623 (RRID:CVCL_4J34)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4982; HMBS; Simple; p.Thr35Met (c.104C>T); ClinVar=VCV000449465; Zygosity=Heterozygous (Coriell=GM01623).
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 16Y
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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM01623
Cell line databases/resources CLO; CLO_0031575
Biological sample resources BioSample; SAMN00806983
Encyclopedic resources Wikidata; Q54836958
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number12