ID   CQ4-iPSC clone 34
AC   CVCL_UM97
SY   iPSC-CoQ4mut-clone 34; CQ4-C34
DR   Wikidata; Q93458312
RX   PubMed=28465093;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Deposito-iPSC-CoQ4mut-clone-34.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/ANEXO-Deposito-iPSC-CoQ4mut-clone-34.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; HGNC:19693; COQ4; Simple; p.Glu161Asp (c.483G>C); ClinVar=VCV000380493; Zygosity=Heterozygous (PubMed=28465093).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=28465093
ST   Amelogenin: X
ST   CSF1PO: 11
ST   D13S317: 12
ST   D16S539: 12,13
ST   D18S51: 13,16
ST   D19S433: 15.2,16
ST   D21S11: 26,28
ST   D2S1338: 19,20
ST   D3S1358: 15,16
ST   D5S818: 11,13
ST   D7S820: 10,13
ST   D8S1179: 13
ST   FGA: 21,23
ST   TH01: 7,8
ST   TPOX: 8,12
ST   vWA: 17
DI   NCIt; C142083; Coenzyme Q10 deficiency
DI   ORDO; Orphanet_457185; Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_QY04 ! CQ4-iPSC clone 14
SX   Female
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 10-04-25; Version: 11
//
RX   PubMed=28465093; DOI=10.1016/j.scr.2016.09.007;
RA   Romero-Moya, Damia
RA   Castano, Julio
RA   Santos-Ocana, Carlos
RA   Navas, Placido
RA   Menendez, Pablo
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).
//