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Cellosaurus GM01363 (CVCL_J112)

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Cell line name GM01363
Synonyms GM-1363
Accession CVCL_J112
Resource Identification Initiative To cite this cell line use: GM01363 (RRID:CVCL_J112)
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.Ala11Ala (c.33G>C); ClinVar=VCV000640707; Zygosity=Heterozygous; Note=Silent mutation that may affect splicing (Coriell=GM01363).
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 Age unspecified
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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
Richard A. Mulivor, Sharon F. Suchy;
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; GM01363
Cell line databases/resources CLO; CLO_0030904
Biological sample resources BioSample; SAMN00803820
Encyclopedic resources Wikidata; Q54836783
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number17