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Cellosaurus CQ4ed-iPSC (CVCL_A8HP)

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Cell line name CQ4ed-iPSC
Synonyms iPSC-CoQ4mut-genetically corrected
Accession CVCL_A8HP
Resource Identification Initiative To cite this cell line use: CQ4ed-iPSC (RRID:CVCL_A8HP)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Josep Carreras Leukemia Research Institute; Barcelona; Spain.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:19693; COQ4; Simple_corrected; p.Glu161Asp (c.483G>C); ClinVar=VCV000380493; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=28465093).
Disease Coenzyme Q10 deficiency (NCIt: C142083)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome (ORDO: Orphanet_457185)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_QY04 (CQ4-iPSC clone 14)
Sex of cell Female
Age at sampling 4Y
Category Induced pluripotent stem cell
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+Dep%C3%B3sito+de+iPSC+COQ4+corrected.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo%2520iPSC%2520COQ4%2520corrected.pdf
Publications

PubMed=28465093; DOI=10.1016/j.scr.2016.09.007
Damia Romero-Moya, Julio Castano, Carlos Santos-Ocana, Placido Navas, Pablo Menendez;
Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene.
Stem Cell Res. 24:144-147(2017)

Cross-references
Encyclopedic resources Wikidata; Q107114712
Entry history
Entry creation20-May-2021
Last entry update10-Apr-2025
Version number7