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Cellosaurus GM01012 (CVCL_L744)

[Text version]
Cell line name GM01012
Synonyms GM-1012; GM1012A
Accession CVCL_L744
Resource Identification Initiative To cite this cell line use: GM01012 (RRID:CVCL_L744)
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.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (Coriell=GM01012).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_B336 (DF508 2)CVCL_B337 (DF508 4)CVCL_B338 (DF508 5)
CVCL_B339 (DF508 6)
Sex of cell Male
Age at sampling 8Y
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=20715179; DOI=10.1002/stem.495
Somers A., Jean J.-C., Sommer C.A., Omari A., Ford C.C., Mills J.A., Ying L., Sommer A.G., Jean J.M., Smith B.W., Lafyatis R., Demierre M.-F., Weiss D.J., French D.L., Gadue P., Murphy G.J., Mostoslavsky G., Kotton D.N.
Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette.
Stem Cells 28:1728-1740(2010)

Cross-references
Cell line collections (Providers) Coriell; GM01012
Cell line databases/resources CLO; CLO_0029469
Biological sample resources BioSample; SAMN00803553
Encyclopedic resources Wikidata; Q54836599
Entry history
Entry creation06-May-2013
Last entry update30-Jan-2024
Version number19