ID   IBBISTi003-B
AC   CVCL_A5FL
SY   2041 clone 2
DR   hPSCreg; IBBISTi003-B
DR   Wikidata; Q107115409
RX   PubMed=34087993;
CC   From: Simao Jose Teixeira da Rocha; Porto Salvo; Portugal.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1101; BRCA2; Unexplicit; c.156_157insAlu; ClinVar=VCV000126018; Zygosity=Heterozygous (PubMed=34087993).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C36101; BRCA2-associated hereditary breast and ovarian cancer syndrome
DI   ORDO; Orphanet_145; Hereditary breast and ovarian cancer syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A5FK ! IBBISTi003-A
OI   CVCL_A5FM ! IBBISTi003-C
OI   CVCL_A5FN ! IBBISTi003-D
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 05-10-23; Version: 6
//
RX   PubMed=34087993; DOI=10.1016/j.scr.2021.102364;
RA   Silva T.P., Pereira C.A., Raposo A.C., Oliveira A.R., Arez M.,
RA   Cabral J.M.S., Milagre I., do Carmo-Fonseca M., da Rocha S.J.T.;
RT   "Generation and characterization of induced pluripotent stem cells
RT   heterozygous for the Portuguese BRCA2 founder mutation.";
RL   Stem Cell Res. 53:102364-102364(2021).
//