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Cellosaurus GM03949 (CVCL_L947)

[Text version]
Cell line name GM03949
Accession CVCL_L947
Resource Identification Initiative To cite this cell line use: GM03949 (RRID:CVCL_L947)
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:583; APC; Simple; p.Gln541Ter (c.1621C>T); ClinVar=VCV000000806; Zygosity=Heterozygous (Coriell=GM03949).
Disease Familial adenomatous polyposis (NCIt: C3339)
Familial adenomatous polyposis (ORDO: Orphanet_733)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_L946 ! GM03948
Sex of cell Female
Age at sampling 30Y
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; GM03949
Cell line databases/resources CLO; CLO_0016082
Encyclopedic resources Wikidata; Q54838344
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number17