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Cellosaurus SCVIi016-A (CVCL_A9AK)

[Text version]

Cell line name SCVIi016-A
Synonyms SCVI-750; SCVI750
Accession CVCL_A9AK
Resource Identification Initiative To cite this cell line use: SCVIi016-A (RRID:CVCL_A9AK)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: Caucasian.
Derived from sampling site: Peripheral blood.
Sequence variations Mutation; HGNC; 6294; KCNQ1; Simple; p.Arg192Cysfs*91 (c.573_577delGCGCT) (p.Arg65Cysfs*91, c.192_196delGCGCT); ClinVar=VCV000053072; Zygosity=Heterozygous (PubMed=34411974).
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 57Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34411974

Markers:
AmelogeninX
CSF1PO10,11
D2S133819,20
D3S135815,17
D5S81811,12
D7S8208
D8S117913,15
D13S3179,11
D16S53911,12
D18S5112,14.2
D19S43314,15
D21S1129,33.2
FGA22,25
TH017,9.3
TPOX8,10
vWA17

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Publications

PubMed=34411974; DOI=10.1016/j.scr.2021.102492
Zhang H., Jahng J.W.S., Liu Y., Chase A.J., Perez M.V., Wu J.C.
Generation of three induced pluripotent stem cell lines (SCVIi014-A, SCVIi015-A, and SCVIi016-A) from patients with LQT1 caused by heterozygous mutations in the KCNQ1 gene.
Stem Cell Res. 55:102492-102492(2021)

Cross-references
Cell line databases/resources hPSCreg; SCVIi016-A
Entry history
Entry creation23-Sep-2021
Last entry update23-Sep-2021
Version number1