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Cellosaurus GM02124 (CVCL_4J45)

[Text version]
Cell line name GM02124
Synonyms GM-2124
Accession CVCL_4J45
Resource Identification Initiative To cite this cell line use: GM02124 (RRID:CVCL_4J45)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4982; HMBS; Simple; p.Val93Phe (c.277G>T); Zygosity=Heterozygous (Coriell=GM02124).
Disease Acute intermittent porphyria (NCIt: C84536)
Acute intermittent porphyria (ORDO: Orphanet_79276)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 32Y
Category Transformed 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)

Cross-references
Cell line collections (Providers) Coriell; GM02124
Cell line databases/resources CLO; CLO_0031847
Biological sample resources BioSample; SAMN00807498
Encyclopedic resources Wikidata; Q54837308
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number14