ID   L749.1
AC   CVCL_DR24
DR   Wikidata; Q54901837
RX   PubMed=27346203;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento_SOLICITUD_DE_DEPOSITO_L749_1.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Instituto de Investigaciones Biomedicas Alberto Sols; Madrid; Spain.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:7414; MT-ATP6; Simple; p.Leu156Arg (m.8993T>G); ClinVar=VCV000009641; Zygosity=Unspecified (PubMed=27346203).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
HI   CVCL_8A61 ! GM13411
SX   Male
AG   8M
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 10-04-25; Version: 14
//
RX   PubMed=27346203; DOI=10.1016/j.scr.2016.04.012;
RA   Galera-Monge T., Zurita-Diaz F., Gonzalez-Paramos C.,
RA   Moreno-Izquierdo A., Fraga M.F., Fernandez A.F., Garesse R.,
RA   Gallardo M.E.;
RT   "Generation of a human iPSC line from a patient with Leigh syndrome
RT   caused by a mutation in the MT-ATP6 gene.";
RL   Stem Cell Res. 16:766-769(2016).
//