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Cellosaurus GM06966 (CVCL_0M39)

[Text version]
Cell line name GM06966
Synonyms GM6966; GM 6966
Accession CVCL_0M39
Resource Identification Initiative To cite this cell line use: GM06966 (RRID:CVCL_0M39)
Comments Population: Caucasian.
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.Glu92Ter (c.274G>T); ClinVar=VCV000007186; Zygosity=Heterozygous (Coriell=GM06966).
  • Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM06966).
Disease Cystic fibrosis (NCIt: C2975)
Nephropathic cystinosis (NCIt: C129932)
Cystic fibrosis (ORDO: Orphanet_586)
Nephropathic infantile cystinosis (ORDO: Orphanet_411629)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Finite cell line
Publications

CLPUB00720
Greene A.E., Mulivor R.A.
1986/1987 catalog of cell lines. NIGMS human genetic mutant cell repository. 13th edition. October 1986.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986)

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=9792862; DOI=10.1086/302118; PMCID=PMC1377545
Shotelersuk V., Larson D., Anikster Y., McDowell G., Lemons R., Bernardini I., Guo J.-R., Thoene J., Gahl W.A.
CTNS mutations in an American-based population of cystinosis patients.
Am. J. Hum. Genet. 63:1352-1362(1998)

Cross-references
Cell line collections (Providers) Coriell; GM06966
Cell line databases/resources CLO; CLO_0036443
Encyclopedic resources Wikidata; Q54842408
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number16