ID   YBLi006-A
AC   CVCL_D0QA
SY   YBL/PH/2022/0025
DR   BioSamples; SAMEA112910788
DR   hPSCreg; YBLi006-A
DR   Wikidata; Q123033952
RX   PubMed=37290137;
CC   From: Yashraj Biotechnology Ltd; Navi Mumbai; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:1100; BRCA1; Simple; p.Pro871Leu (c.2612C>T); ClinVar=VCV000041812; Zygosity=Heterozygous (PubMed=37290137).
CC   Sequence variation: Mutation; HGNC; HGNC:1100; BRCA1; Simple; p.Glu1038Gly (c.3113A>G); ClinVar=VCV000041815; Zygosity=Heterozygous (PubMed=37290137).
CC   Sequence variation: Mutation; HGNC; HGNC:1100; BRCA1; Simple; p.Lys1183Arg (c.3548A>G); dbSNP=rs16942; Zygosity=Heterozygous (PubMed=37290137).
CC   Sequence variation: Mutation; HGNC; HGNC:1100; BRCA1; Simple; p.Ser1613Gly (c.4837A>G); ClinVar=VCV000041827; Zygosity=Heterozygous (PubMed=37290137).
CC   Sequence variation: Mutation; HGNC; HGNC:25568; FANCI; Simple; p.Gly27Val (c.80G>T); Zygosity=Heterozygous (PubMed=37290137).
CC   Sequence variation: Mutation; HGNC; HGNC:25568; FANCI; Simple; p.Ala86Val (c.257C>T); ClinVar=VCV000257484; Zygosity=Heterozygous (PubMed=37290137).
CC   Sequence variation: Mutation; HGNC; HGNC:25568; FANCI; Simple; p.Cys742Ser (c.2225G>C); ClinVar=VCV000257482; Zygosity=Heterozygous (PubMed=37290137).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C36100; BRCA1 syndrome
DI   ORDO; Orphanet_227535; Hereditary breast cancer
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-04-25; Version: 4
//
RX   PubMed=37290137; DOI=10.1016/j.scr.2023.103128;
RA   Chitrangi S., Vaity P., Jamdar A., Sarkar J., Bhatt S.;
RT   "Derivation of breast cancer patient derived human induced pluripotent
RT   stem cell line (YBLi006-A) with FANC-BRCA gene mutations: a resource
RT   for precision & personalized medicine.";
RL   Stem Cell Res. 70:103128-103128(2023).
//