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Cellosaurus GM25267 (CVCL_1N93)

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Cell line name GM25267
Synonyms GM25267*D; LQT3 iPS
Accession CVCL_1N93
Resource Identification Initiative To cite this cell line use: GM25267 (RRID:CVCL_1N93)
Comments Population: Latino or Hispanic.
Derived from site: In situ; Leg, skin, dermis; UBERON=UBERON_0001511+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10593; SCN5A; Simple; p.Asn406Lys (c.1218C>A); ClinVar=VCV000067648; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM25267).
Disease Long QT syndrome 3 (NCIt: C137959)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 18Y
Category Induced pluripotent stem cell
Publications

PubMed=24268663; DOI=10.1016/j.biomaterials.2013.10.052; PMCID=PMC3900500
Zhen Ma, Sangmo Koo, Micaela A. Finnegan, Peter Loskill, Nathaniel Huebsch, Natalie C. Marks, Bruce R. Conklin, Costas P. Grigoropoulos, Kevin E. Healy;
Three-dimensional filamentous human diseased cardiac tissue model.
Biomaterials 35:1367-1377(2014)

Cross-references
Cell line collections (Providers) Coriell; GM25267
Cell line databases/resources SKIP; SKIP000737
Encyclopedic resources Wikidata; Q54853861
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number15