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Cellosaurus GM09295 (CVCL_AA73)

[Text version]
Cell line name GM09295
Accession CVCL_AA73
Resource Identification Initiative To cite this cell line use: GM09295 (RRID:CVCL_AA73)
Comments Population: Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:5959; ELP1; Simple; c.2204+6T>C (2507+6T>C) (IVS20+6T>C) (Ex20del); ClinVar=VCV000006085; Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM09295).
  • Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (Coriell=GM09295).
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Arg247Trp (c.739C>T); ClinVar=VCV000003922; Zygosity=Homozygous (Coriell=GM09295).
Disease Familial dysautonomia (NCIt: C84706)
Familial dysautonomia (ORDO: Orphanet_1764)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 23Y
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; GM09295
Cell line databases/resources CLO; CLO_0011882
Encyclopedic resources Wikidata; Q54843655
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number16