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Cellosaurus GM08342 (CVCL_V217)

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Cell line name GM08342
Synonyms GM08342A
Accession CVCL_V217
Resource Identification Initiative To cite this cell line use: GM08342 (RRID:CVCL_V217)
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:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM08342).
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Gly551Asp (c.1652G>A); ClinVar=VCV000007120; Zygosity=Heterozygous (Coriell=GM08342).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Transformed cell line
Publications

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; GM08342
Cell line databases/resources CLO; CLO_0010583
Biological sample resources BioSample; SAMN00798016
Encyclopedic resources Wikidata; Q54843158
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number18