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Cellosaurus GM03948 (CVCL_L946)

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Cell line name GM03948
Synonyms GM3948
Accession CVCL_L946
Resource Identification Initiative To cite this cell line use: GM03948 (RRID:CVCL_L946)
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:583; APC; Simple; p.Gln541Ter (c.1621C>T); ClinVar=VCV000000806; Zygosity=Heterozygous (Coriell=GM03948).
Disease Familial adenomatous polyposis (NCIt: C3339)
Familial adenomatous polyposis (ORDO: Orphanet_733)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A9Z6 (FAP 3948-1)
Originate from same individual CVCL_L947 ! GM03949
Sex of cell Female
Age at sampling 30Y
Category Finite cell line
Publications

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=30024920; DOI=10.1371/journal.pone.0200657; PMCID=PMC6053155
Cesar A. Sommer, Amalia Capilla, Francisco Javier Molina-Estevez, Andreia Gianotti-Sommer, Nicholas J. Skvir, Ignacio Caballero, Sanjib Chowdhury, Gustavo Mostoslavsky;
Modeling APC mutagenesis and familial adenomatous polyposis using human iPS cells.
PLoS ONE 13:e0200657.1-e0200657.21(2018)

Cross-references
Cell line collections (Providers) Coriell; GM03948
Cell line databases/resources CLO; CLO_0016115
Encyclopedic resources Wikidata; Q54838343
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number17