ID   IGIBi002-A [2021]
AC   CVCL_A4WZ
SY   BTP8
DR   hPSCreg; IGIBi002-A
DR   Wikidata; Q107115435
RX   PubMed=33338925;
CC   From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; c.92+5G>C (IVS1,G>C,+5) (IVS1-5G>C); ClinVar=VCV000015447; Zygosity=Homozygous (PubMed=33338925).
CC   Caution: Two different cell lines were established by CSIR-IGIB with the same IGIBi002-A designation.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34375; Beta thalassemia
DI   ORDO; Orphanet_231214; Beta-thalassemia major
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=33338925; DOI=10.1016/j.scr.2020.102124;
RA   Thakur, Priya
RA   Bhargava, Nupur
RA   Jaitly, Shashank
RA   Gupta, Pankaj
RA   Kumar Bhattacharya, Saurabh
RA   Padma, Gunda
RA   Kondaveeti, Saroja
RA   Jain, Suman
RA   Ramalingam, Sivaprakash
RT   "Establishment and characterization of induced pluripotent stem cell
RT   line (IGIBi002-A) from a beta-thalassemia patient with IVS1-5 mutation
RT   by non-integrating reprogramming approach.";
RL   Stem Cell Res. 50:102124-102124(2021).
//