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Cellosaurus BIHi267-A (CVCL_D0QY)

[Text version]
Cell line name BIHi267-A
Accession CVCL_D0QY
Resource Identification Initiative To cite this cell line use: BIHi267-A (RRID:CVCL_D0QY)
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; 7414; MT-ATP6; Simple; p.Leu217Arg (m.9176T>G); ClinVar=VCV000009650; Zygosity=Homoplasmic (from autologous cell line BIHi267-B).
Disease Leigh disease (NCIt: C84814)
Leigh syndrome (ORDO: Orphanet_506)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D0QZ ! BIHi267-B
Sex of cell Male
Age at sampling 17Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; BIHi267-A
Encyclopedic resources Wikidata; Q123030793
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2