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Cellosaurus PSMi003-A (CVCL_VE98)

[Text version]

Cell line name PSMi003-A
Synonyms HDF32-ARLQT-iPS
Accession CVCL_VE98
Resource Identification Initiative To cite this cell line use: PSMi003-A (RRID:CVCL_VE98)
Comments From: Institution Fondazione IRCCS Policlinico San Matteo; Pavia; Italy.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 6294; KCNQ1; Simple; p.Gly179Ser (c.535G>A); ClinVar=VCV000053063; Zygosity=Homozygous (PubMed=29684900).
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 51Y
Category Induced pluripotent stem cell
Publications

PubMed=29684900; DOI=10.1016/j.scr.2018.04.003
Mura M., Ginevrino M., Zappatore R., Pisano F., Boni M., Castelletti S., Crotti L., Valente E.M., Schwartz P.J., Gnecchi M.
Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of long QT syndrome type 1.
Stem Cell Res. 29:170-173(2018)

Cross-references
Cell line databases/resources hPSCreg; PSMi003-A
Encyclopedic resources Wikidata; Q54948582
Entry history
Entry creation14-May-2018
Last entry update17-Mar-2022
Version number8