ID   HHUi003-A
AC   CVCL_C1T8
SY   A4_M1
DR   hPSCreg; HHUi003-A
DR   Wikidata; Q114311609
CC   From: Universitatsklinikum Dusseldorf, Heinrich-Heine-Universitat Dusseldorf; Dusseldorf; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7414; MT-ATP6; Simple; p.Leu220Pro (m.9185T>C); ClinVar=VCV000009647; Zygosity=Homoplasmic (from autologous cell lines HHUi003-A; HHUi003-B).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84814; Leigh disease
DI   ORDO; Orphanet_506; Leigh syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C1T9 ! HHUi003-B
OI   CVCL_C1TA ! HHUi003-C
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 02-05-24; Version: 5
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