ID   CQ4ed-iPSC
AC   CVCL_A8HP
SY   iPSC-CoQ4mut-genetically corrected
DR   Wikidata; Q107114712
RX   PubMed=28465093;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/135/Caracteristicas%20-%20Dep%c3%b3sito%20de%20iPSC%20COQ4%20corrected.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/135/Anexo%20-%20Anexo%20iPSC%20COQ4%20corrected.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Josep Carreras Leukemia Research Institute; Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; 19693; COQ4; Simple_corrected; p.Glu161Asp (c.483G>C); ClinVar=VCV000380493; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=28465093).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C142083; Coenzyme Q10 deficiency
DI   ORDO; Orphanet_457185; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_QY04 ! CQ4-iPSC clone 14
SX   Female
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=28465093; DOI=10.1016/j.scr.2016.09.007;
RA   Romero-Moya D., Castano J., Santos-Ocana C., Navas P., Menendez P.;
RT   "Generation, genome edition and characterization of iPSC lines from a
RT   patient with coenzyme Q10 deficiency harboring a heterozygous mutation
RT   in COQ4 gene.";
RL   Stem Cell Res. 24:144-147(2017).
//