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Cellosaurus GM09239 (CVCL_4J58)

[Text version]
Cell line name GM09239
Accession CVCL_4J58
Resource Identification Initiative To cite this cell line use: GM09239 (RRID:CVCL_4J58)
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; 4982; HMBS; Simple; c.33+1G>A (IVS1+1G>A); ClinVar=VCV000001441; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM09239).
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 49Y
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; GM09239
Cell line databases/resources CLO; CLO_0012039
Encyclopedic resources Wikidata; Q54843632
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number11