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Cellosaurus NCUFi001-A (CVCL_A0MA)

[Text version]

Cell line name NCUFi001-A
Accession CVCL_A0MA
Resource Identification Initiative To cite this cell line use: NCUFi001-A (RRID:CVCL_A0MA)
Comments From: Niccolo Cusano University Foundation; Roma; Italy.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 6294; KCNQ1; Simple; p.Gly314Ser (c.940G>A) (p.Gly187Ser, c.559G>A); ClinVar=VCV000003123; Zygosity=Heterozygous (PubMed=34130155).
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 17Y
Category Induced pluripotent stem cell
Publications

PubMed=34130155; DOI=10.1016/j.scr.2021.102418
Lavra L., Magi F., Ulivieri A., Morgante A., Paulis M., Sala L., Pedrazzini M., Polisca P., Rocchetti M., Calo L., Sciacchitano S., Salehi L.B.
Generation and characterization of the human induced pluripotent stem cell (hiPSC) line NCUFi001-A from a patient carrying KCNQ1 G314S mutation.
Stem Cell Res. 54:102418-102418(2021)

Cross-references
Cell line databases/resources hPSCreg; NCUFi001-A
Encyclopedic resources Wikidata; Q108821020
Entry history
Entry creation23-Sep-2021
Last entry update16-Dec-2021
Version number2