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Cellosaurus GM03465 (CVCL_0M21)

[Text version]
Cell line name GM03465
Accession CVCL_0M21
Resource Identification Initiative To cite this cell line use: GM03465 (RRID:CVCL_0M21)
Comments Population: Caucasian.
Derived from site: In situ; Heart, pericardium; UBERON=UBERON_0002407.
Cell type: Fibroblast of heart; CL=CL_0002548.
Sequence variations
  • Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM03465).
  • Mutation; HGNC; 1884; CFTR; Simple; p.Gly551Asp (c.1652G>A); ClinVar=VCV000007120; Zygosity=Heterozygous (Coriell=GM03465).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_0M22 ! GM03466
Sex of cell Male
Age at sampling 4Y
Category Finite 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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

Cross-references
Cell line collections (Providers) Coriell; GM03465
Cell line databases/resources CLO; CLO_0017030
Biological sample resources BioSample; SAMN00808413
Encyclopedic resources Wikidata; Q54838080
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number13