ID   LND554SV.3
AC   CVCL_AB83
DR   Wikidata; Q54902855
RX   PubMed=27345786;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/77/Caracteristicas%20-%20SOLICITUD_DEPOSITO_LND554SV3_FIRMADA.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   Sequence variation: Mutation; HGNC; 7461; MT-ND5; Simple; p.Asp393Asn (m.13513G>A); ClinVar=VCV000009702; Zygosity=Heteroplasmic (PubMed=27345786).
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)
SX   Male
AG   9M
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 12
//
RX   PubMed=27345786; DOI=10.1016/j.scr.2015.12.005;
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.";
RL   Stem Cell Res. 16:63-66(2016).
//