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Cellosaurus NCUFi001-A (CVCL_A0MA)

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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; Rome; Italy.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 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
Luca Lavra, Fiorenza Magi, Alessandra Ulivieri, Alessandra Morgante, Marianna Paulis, Luca Sala, Matteo Pedrazzini, Patrizio Polisca, Marcella Rocchetti, Leonardo Calo, Salvatore Sciacchitano, Leila B. Salehi;
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 update19-Dec-2024
Version number6