ID   FAP 3948-1
AC   CVCL_A9Z6
SY   FAP3948-1; FAP3948
DR   Wikidata; Q102113807
RX   PubMed=30024920;
WW   https://stemcellbank.bu.edu/Catalog/Item/Details/671
CC   From: Boston University School of Medicine; Boston; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 583; APC; Simple; p.Gln541Ter (c.1621C>T); ClinVar=VCV000000806; Zygosity=Heterozygous (PubMed=30024920).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3339; Familial adenomatous polyposis
DI   ORDO; Orphanet_733; Familial adenomatous polyposis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_L946 ! GM03948
SX   Female
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 30-01-24; Version: 8
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RX   PubMed=30024920; DOI=10.1371/journal.pone.0200657; PMCID=PMC6053155;
RA   Sommer C.A., Capilla A., Molina-Estevez F.J., Gianotti-Sommer A.,
RA   Skvir N.J., Caballero I., Chowdhury S., Mostoslavsky G.;
RT   "Modeling APC mutagenesis and familial adenomatous polyposis using
RT   human iPS cells.";
RL   PLoS ONE 13:E0200657-E0200657(2018).
//