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Cellosaurus GM04320 (CVCL_0M23)

[Text version]
Cell line name GM04320
Synonyms GM 4320
Accession CVCL_0M23
Resource Identification Initiative To cite this cell line use: GM04320 (RRID:CVCL_0M23)
Comments Population: Caucasian.
Caution: Was originally thought to be homozygous for CFTR p.Phe508del and is still described as such in Coriell.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 1884; CFTR; Simple; p.Ile507del (c.1516_1518ATC[1]) (c.1519_1521delATC); ClinVar=VCV000007106; Zygosity=Heterozygous (PubMed=25772471).
  • Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=25772471).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_WN85 (CF iPSC clone 17)
Sex of cell Male
Age at sampling 17Y
Category Finite cell line
Publications

PubMed=2445735; DOI=10.1016/S0021-9258(18)47730-7
Lin P.-Y., Gruenstein E.
Identification of a defective cAMP-stimulated Cl- channel in cystic fibrosis fibroblasts.
J. Biol. Chem. 262:15345-15347(1987)

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)

PubMed=25772471; DOI=10.1016/j.stemcr.2015.02.005; PMCID=PMC4400651
Crane A.M., Kramer P., Bui-Griffith J.H., Chung W.J., Li X.S., Gonzalez-Garay M.L., Hawkins F., Liao W., Mora D., Choi S., Wang J.-B., Sun H.C., Paschon D.E., Guschin D.Y., Gregory P.D., Kotton D.N., Holmes M.C., Sorscher E.J., Davis B.R.
Targeted correction and restored function of the CFTR gene in cystic fibrosis induced pluripotent stem cells.
Stem Cell Reports 4:569-577(2015)

Cross-references
Cell line collections (Providers) Coriell; GM04320
Cell line databases/resources CLO; CLO_0019529
Encyclopedic resources Wikidata; Q54838481
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number15