Cellosaurus cell line IGIBi026-A (CVCL

Cross-references
Cell line name	IGIBi026-A
Synonyms	BKWD01C; BKWD01
Accession	CVCL_D6RG
Resource Identification Initiative	To cite this cell line use: IGIBi026-A (RRID:CVCL_D6RG)
Comments	From: Institute of Genomics and Integrative Biology (CSIR-IGIB); New Delhi; India. Population: Indian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:870; ATP7B; Simple; p.Cys271Ter (c.813C>A); ClinVar=VCV000188930; Zygosity=Heterozygous (PubMed=39326255). Mutation; HGNC; HGNC:870; ATP7B; Simple; p.Arg723Glufs*31 (c.2165dupT); ClinVar=VCV000210483; Zygosity=Heterozygous (PubMed=39326255).
Disease	Hepatolenticular degeneration (NCIt: C84756) Wilson disease (ORDO: Orphanet_905)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	13Y
Category	Induced pluripotent stem cell
Publications	PubMed=39326255; DOI=10.1016/j.scr.2024.103567 Bhaskar Jyoti Saikia, Juhi Bhardwaj, Arti Saini, Roopa Rajan, B.K. Binukumar; Generation of an induced pluripotent stem cell (iPSC) line (IGIBi026-A) derived from Wilson disease patient harboring compound heterozygous mutations [c.2165dupT (p.R723Efs31) and c.C813A (p.C271*)] in the ATP7B gene. Stem Cell Res. 81:103567-103567(2024)
Cell line databases/resources	hPSCreg; IGIBi026-A
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2