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Cellosaurus SCVIi014-A (CVCL_A9AI)

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Cell line name SCVIi014-A
Synonyms SCVI-253; SCVI 253; SCVI253
Accession CVCL_A9AI
Resource Identification Initiative To cite this cell line use: SCVIi014-A (RRID:CVCL_A9AI)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: Latino or Hispanic.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Arg190Gln (c.569G>A) (p.Arg63Gln, c.188G>A); ClinVar=VCV000003117; 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 Male
Age at sampling 50Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34411974

Markers:
AmelogeninX,Y
CSF1PO12
D2S133820,23
D3S135815,17
D5S81811,12
D7S8208,12
D8S117912,16
D13S3178,12
D16S5399,12
D18S5112,15
D19S43313.2,15.2
D21S1130.2,32
FGA25,26
TH017,10
TPOX7,8
vWA15,17

Run an STR similarity search on this cell line
Publications

PubMed=34411974; DOI=10.1016/j.scr.2021.102492; PMCID=PMC9482789
Hao Zhang, James Won Suk Jahng, Yu Liu, Amanda J. Chase, Marco V. Perez, Joseph C. Wu;
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; SCVIi014-A
Biological sample resources BioSamples; SAMEA9082265
Encyclopedic resources Wikidata; Q108821279
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number5