ID   IBBISTi001-D
AC   CVCL_A5FH
SY   2042 clone 5; 2042 cl5
DR   hPSCreg; IBBISTi001-D
DR   Wikidata; Q107115404
RX   PubMed=33631522;
CC   From: Simao Jose Teixeira da Rocha; Porto Salvo; Portugal.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1100; BRCA1; Simple; p.Ala1206Profs*4 (c.3612delA); ClinVar=VCV000037533; Zygosity=Heterozygous (PubMed=33631522).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C36100; BRCA1 syndrome
DI   ORDO; Orphanet_227535; Hereditary breast cancer
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_A5FE ! IBBISTi001-A
OI   CVCL_A5FF ! IBBISTi001-B
OI   CVCL_A5FG ! IBBISTi001-C
SX   Female
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 17-03-22; Version: 3
//
RX   PubMed=33631522; DOI=10.1016/j.scr.2021.102242;
RA   Silva T.P., Pereira C.A., Oliveira A.R., Raposo A.C., Arez M.,
RA   Cabral J.M.S., Milagre I., Carmo-Fonseca M., da Rocha S.J.T.;
RT   "Generation and characterization of induced pluripotent stem cells
RT   from a family carrying the BRCA1 mutation c.3612delA.";
RL   Stem Cell Res. 52:102242-102242(2021).
//