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Cellosaurus PSMi005-A (CVCL_WJ33)

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Cell line name PSMi005-A
Synonyms HDF29-LQT1-iPS
Accession CVCL_WJ33
Resource Identification Initiative To cite this cell line use: PSMi005-A (RRID:CVCL_WJ33)
Comments From: Institution Fondazione IRCCS Policlinico San Matteo; Pavia; Italy.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Arg190Trp (c.568C>T) (p.Arg63Trp, c.187C>T); ClinVar=VCV000053070; Zygosity=Heterozygous (PubMed=31009818).
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 Female
Age at sampling 37Y
Category Induced pluripotent stem cell
Publications

PubMed=31009818; DOI=10.1016/j.scr.2019.101437
Manuela Mura, Yee-Ki Lee, Federica Pisano, Monia Ginevrino, Marina Boni, Federica Calabro, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Hung-Fat Tse, Massimiliano Gnecchi;
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation.
Stem Cell Res. 37:101437-101437(2019)

Cross-references
Cell line databases/resources hPSCreg; PSMi005-A
Encyclopedic resources Wikidata; Q98128685
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number10