Cellosaurus cell line (CVCL

Cross-references
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	in the ADHD-associated gene ADGRL3. Stem Cell Res. 67:103016-103016(2023)
Cell line databases/resources	hPSCreg; BIHi276-A
Encyclopedic resources	Wikidata; Q123030799
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3