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Cellosaurus UKKi007-A (CVCL_2Z94)

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Cell line name UKKi007-A
Synonyms NP0014-6; NP0014; iPs CPVT1; CPVT-iPSC-c6
Accession CVCL_2Z94
Resource Identification Initiative To cite this cell line use: UKKi007-A (RRID:CVCL_2Z94)
Comments From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
Population: Caucasian; German.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10484; RYR2; Simple; p.Phe2483Ile (c.7447T>A); Zygosity=Heterozygous (PubMed=22178870).
Disease Catecholaminergic polymorphic ventricular tachycardia type 1 (NCIt: C123414)
Catecholaminergic polymorphic ventricular tachycardia (ORDO: Orphanet_3286)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_9S36 ! UKKi007-B
Sex of cell Female
Age at sampling 46Y
Category Induced pluripotent stem cell
Publications

PubMed=22178870; DOI=10.1159/000335753; PMCID=PMC3709175
Azra Fatima, Guo-Xing Xu, Kai-Feng Shao, Symeon Papadopoulos, Martin Lehmann, Juan Jose Arnaiz-Cot, Angelo O. Rosa, Filomain Nguemo, Matthias Matzkies, Sven Dittmann, Susannah L. Stone ...Show all 26 authors... , Matthias Linke, Ulrich Zechner, Vera Beyer, Hans Christian Hennies, Stephan Rosenkranz, Baerbel Klauke, Abdul S. Parwani, Wilhelm Haverkamp, Gabriele Pfitzer, Martin Farr, Lars Cleemann, Martin Morad, Hendrik Milting, Jurgen Hescheler, Tomo Saric; Show fewer authors
In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells.
Cell. Physiol. Biochem. 28:579-592(2011)

Cross-references
Cell line collections (Providers) EBiSC; UKKi007-A
ECACC; 66540001 - Discontinued
Ximbio; 153331 - Discontinued
Cell line databases/resources hPSCreg; UKKi007-A
SKIP; SKIP001411
SKIP; SKIP002459
Biological sample resources BioSamples; SAMEA2629464
Encyclopedic resources Wikidata; Q54990422
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number16