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Cellosaurus GM04346 (CVCL_0M32)

[Text version]
Cell line name GM04346
Accession CVCL_0M32
Resource Identification Initiative To cite this cell line use: GM04346 (RRID:CVCL_0M32)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM04346).
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Trp1282Ter (c.3846G>A); ClinVar=VCV000007129; Zygosity=Heterozygous (Coriell=GM04346).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_0M31 ! GM04345
Sex of cell Male
Age at sampling 25Y
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 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; GM04346
Cell line databases/resources CLO; CLO_0019560
Encyclopedic resources Wikidata; Q54838496
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number14