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Cellosaurus BIHi269-B (CVCL_D0R1)

[Text version]
Cell line name BIHi269-B
Accession CVCL_D0R1
Resource Identification Initiative To cite this cell line use: BIHi269-B (RRID:CVCL_D0R1)
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=Heteroplasmic (PubMed=36669241).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D0R0 ! BIHi269-A
CVCL_D0R2 ! BIHi269-C
CVCL_D0R3 ! BIHi269-D
Sex of cell Female
Age at sampling 42Y
Category Induced pluripotent stem cell

PubMed=36669241; DOI=10.1016/j.scr.2023.103030
Henke M.-T., Zink A., Diecke S., Prigione A., Schuelke M.
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; BIHi269-B
Biological sample resources BioSamples; SAMEA11951596
Encyclopedic resources Wikidata; Q123030796
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2