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Cellosaurus GM01012 (CVCL_L744)

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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; 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
Lewis Lemon Coriell, Arthur E. Greene;
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
Richard A. Mulivor, Sharon F. Suchy;
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=20715179; DOI=10.1002/stem.495; PMCID=PMC3422663
Aba Somers, Jyh-Chang Jean, Cesar A. Sommer, Amel Omari, Christopher C. Ford, Jason A. Mills, Lei Ying, Andreia Gianotti-Sommer, Jenny M. Jean, Brenden W. Smith, Robert Lafyatis ...Show all 18 authors... , Marie-France Demierre, Daniel J. Weiss, Deborah L. French, Paul Gadue, George J. Murphy, Gustavo Mostoslavsky, Darrell N. Kotton; Show fewer authors
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 update19-Dec-2024
Version number20