ID   BIHi269-A
AC   CVCL_D0R0
DR   hPSCreg; BIHi269-A
DR   Wikidata; Q123030795
CC   From: Berlin Institute of Health; Berlin; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7414; MT-ATP6; Simple; p.Leu217Arg (m.9176T>G); ClinVar=VCV000009650; Zygosity=Heteroplasmic (from autologous cell line BIHi269-B).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0R1 ! BIHi269-B
OI   CVCL_D0R2 ! BIHi269-C
OI   CVCL_D0R3 ! BIHi269-D
SX   Female
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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