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Cellosaurus MRIi005-A (CVCL_B938)

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Cell line name MRIi005-A
Synonyms LQT1
Accession CVCL_B938
Resource Identification Initiative To cite this cell line use: MRIi005-A (RRID:CVCL_B938)
Comments From: Klinikum rechts der Isar, Technical University of Munich; Munich; Germany.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Arg190Gln (c.569G>A) (p.Arg63Gln, c.188G>A); ClinVar=VCV000003117; Zygosity=Heterozygous (PubMed=20660394).
Disease Long QT syndrome 1 (NCIt: C85049)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 8Y
Category Induced pluripotent stem cell
Publications

PubMed=20660394; DOI=10.1056/NEJMoa0908679
Alessandra Moretti, Milena Bellin, Andrea Welling, Christian Billy Jung, Jason T. Lam, Lorenz Bott-Flugel, Tatjana Dorn, Alexander Goedel, Christian Hohnke, Franz Bernhard Hofmann, Melchior Seyfarth ...Show all 14 authors... , Daniel Sinnecker, Albert Schomig, Karl-Ludwig Laugwitz; Show fewer authors
Patient-specific induced pluripotent stem-cell models for long-QT syndrome.
N. Engl. J. Med. 363:1397-1409(2010)

Cross-references
Cell line databases/resources hPSCreg; MRIi005-A
Biological sample resources BioSamples; SAMEA8073003
Encyclopedic resources Wikidata; Q54903000
Entry history
Entry creation06-Jun-2012
Last entry update19-Dec-2024
Version number19