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Cellosaurus GM00768 (CVCL_H138)

[Text version]
Cell line name GM00768
Synonyms GM-768
Accession CVCL_H138
Resource Identification Initiative To cite this cell line use: GM00768 (RRID:CVCL_H138)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 1884; CFTR; Simple; p.Arg347Pro (c.1040G>C); ClinVar=VCV000007110; Zygosity=Heterozygous (Coriell=GM00768).
  • Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM00768).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_H137 ! GM00897
Sex of cell Male
Age at sampling 13Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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; GM00768
Cell line databases/resources CLO; CLO_0028826
Encyclopedic resources Wikidata; Q54836448
Entry history
Entry creation11-Feb-2013
Last entry update30-Jan-2024
Version number16