Cellosaurus cell line KUCFRi003-A (CVCL

Cross-references
Cell line name	KUCFRi003-A
Synonyms	GM03672 iPSC
Accession	CVCL_A8WI
Resource Identification Initiative	To cite this cell line use: KUCFRi003-A (RRID:CVCL_A8WI)
Comments	From: Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University; Seoul; South Korea. Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057.
Sequence variations	Mutation; HGNC; HGNC:7427; MT-CYB; Simple; p.Asp171Asn (m.15257G>A); ClinVar=VCV000009674; Zygosity=Heteroplasmic (PubMed=34091428).
Disease	Leigh disease (NCIt: C84814) Leigh syndrome (ORDO: Orphanet_506)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_8A60 (GM03672)
Sex of cell	Female
Age at sampling	1Y4M
Category	Induced pluripotent stem cell
Publications	PubMed=34091428; DOI=10.1016/j.scr.2021.102392 Daryeon Son, Jie Zheng, In Yong Kim, Seungkwon You; Self-replicative mRNA-mediated generation of induced pluripotent stem cell line from a 1-year-old Leigh syndrome patient with mitochondrial DNA cytochrome b mutation. Stem Cell Res. 54:102392-102392(2021)
Cell line databases/resources	hPSCreg; KUCFRi003-A
Encyclopedic resources	Wikidata; Q108820632
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6