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Cellosaurus FAHXMUi001-A (CVCL_D6IA)

[Text version]
Cell line name FAHXMUi001-A
Synonyms LQTS-iPSCs clone-02
Accession CVCL_D6IA
Resource Identification Initiative To cite this cell line use: FAHXMUi001-A (RRID:CVCL_D6IA)
Comments From: The First Affiliated Hospital of Xinjiang Medical University; Xinjiang; China.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6294; KCNQ1; Simple; p.Gly219Glu (c.656G>A); ClinVar=VCV003003778; Zygosity=Heterozygous (PubMed=36010573).
  • Mutation; HGNC; 17993; TRPM4; Simple; p.Thr160Met (c.479C>T); ClinVar=VCV001743158; Zygosity=Heterozygous (PubMed=36010573).
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 Age unspecified
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=36010573

Markers:
AmelogeninX
CSF1PO9,11
D1S165611,17
D2S133818,23
D3S135815,18
D5S81810,11
D6S104318,20
D7S82011
D8S117913,16
D13S31712,13
D16S53911,12
D18S5114,21
D19S43313,14
D21S1130,31
FGA23,24
Penta D9,11
Penta E11,12
TH016,7
TPOX8,9
vWA17,18

Run an STR similarity search on this cell line
Publications

PubMed=36010573; DOI=10.3390/cells11162495; PMCID=PMC9406448
Wang F.-F., Han Y.-F., Sang W.-Y., Wang L., Liang X.-Y., Wang L., Xing Q., Guo Y.-K., Zhang J.-H., Zhang L., ZuKela T.-H., Xiaokereti J., Lu Y.-M., Zhou X.-H., Tang B.-P., Li Y.-D.
In vitro drug screening using iPSC-derived cardiomyocytes of a long QT-syndrome patient carrying KCNQ1 & TRPM4 dual mutation: an experimental personalized treatment.
Cells 11:2495.1-2495.17(2022)

Cross-references
Cell line databases/resources hPSCreg; FAHXMUi001-A
Encyclopedic resources Wikidata; Q127380841
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2