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Cellosaurus GM09378 (CVCL_5L92)

[Text version]
Cell line name GM09378
Accession CVCL_5L92
Resource Identification Initiative To cite this cell line use: GM09378 (RRID:CVCL_5L92)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 12363; TSC2; Simple; p.Ser1232Thrfs*92 (c.3693_3696delGTCT) (Leu1231fs*1323) (c.3693delGTCT); ClinVar=VCV000050013; Zygosity=Unspecified (Coriell=GM09378).
Disease Tuberous sclerosis 2 (NCIt: C75331)
Tuberous sclerosis complex (ORDO: Orphanet_805)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 33Y
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; GM09378
Cell line databases/resources CLO; CLO_0011846
Encyclopedic resources Wikidata; Q54843708
Entry history
Entry creation14-Dec-2015
Last entry update30-Jan-2024
Version number12