ID   IGIBi026-A
AC   CVCL_D6RG
SY   BKWD01C; BKWD01
DR   hPSCreg; IGIBi026-A
RX   PubMed=39326255;
CC   From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India.
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:870; ATP7B; Simple; p.Cys271Ter (c.813C>A); ClinVar=VCV000188930; Zygosity=Heterozygous (PubMed=39326255).
CC   Sequence variation: Mutation; HGNC; HGNC:870; ATP7B; Simple; p.Arg723Glufs*31 (c.2165dupT); ClinVar=VCV000210483; Zygosity=Heterozygous (PubMed=39326255).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84756; Hepatolenticular degeneration
DI   ORDO; Orphanet_905; Wilson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   PubMed=39326255; DOI=10.1016/j.scr.2024.103567;
RA   Saikia B.J., Bhardwaj J., Saini A., Rajan R., Binukumar B.K.;
RT   "Generation of an induced pluripotent stem cell (iPSC) line
RT   (IGIBi026-A) derived from Wilson disease patient harboring compound
RT   heterozygous mutations [c.2165dupT (p.R723Efs31) and c.C813A
RT   (p.C271*)] in the ATP7B gene.";
RL   Stem Cell Res. 81:103567-103567(2024).
//