Cellosaurus cell line BIHi276-A (CVCL

Cross-references
Cell line name	BIHi276-A
Accession	CVCL_D0R4
Resource Identification Initiative	To cite this cell line use: BIHi276-A (RRID:CVCL_D0R4)
Comments	From: Berlin Institute of Health; Berlin; Germany. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:7414; MT-ATP6; Simple; p.Leu156Arg (m.8993T>G); ClinVar=VCV000009641; Zygosity=Homoplasmic (PubMed=36669241).
Disease	Leigh disease (NCIt: C84814) Leigh syndrome (ORDO: Orphanet_506)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_D0R5 ! BIHi276-C
Sex of cell	Male
Age at sampling	1Y
Category	Induced pluripotent stem cell
Publications	PubMed=36669241; DOI=10.1016/j.scr.2023.103030 Marie-Therese Henke, Annika Zink, Sebastian Diecke, Alessandro Prigione, Markus Schuelke; Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations. Stem Cell Res. 67:103030-103030(2023)
Cell line databases/resources	hPSCreg; BIHi276-A
Biological sample resources	BioSamples; SAMEA11951393
Encyclopedic resources	Wikidata; Q123030799
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3