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Cellosaurus INSRMi014-A (CVCL_C9DT)

[Text version]
Cell line name INSRMi014-A
Synonyms C1-P017
Accession CVCL_C9DT
Resource Identification Initiative To cite this cell line use: INSRMi014-A (RRID:CVCL_C9DT)
Comments From: INSERM; Paris; France.
Omics: Array-based CGH.
Omics: Transcriptome analysis by RNAseq.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6251; KCNH2; Simple; p.Leu127Phe (c.379C>T); ClinVar=VCV000200278; Zygosity=Homozygous (PubMed=37660555).
  • Mutation; HGNC; 6251; KCNH2; Simple; p.Arg892Cys (c.2674C>T); ClinVar=VCV000191470; Zygosity=Homozygous (PubMed=37660555).
Disease Long QT syndrome 2 (NCIt: C137957)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 8Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=37660555

Markers:
AmelogeninX
CSF1PO10,13
D2S133817,24
D3S135817
D5S81812
D7S8209,12
D8S117914,15
D13S31711
D16S53911
D18S5118
D19S43312,14
D21S1130.2,31.2
FGA20
Penta D12
Penta E11,15
TH016,9
TPOX8,11
vWA14,17

Run an STR similarity search on this cell line
Publications

PubMed=37660555; DOI=10.1016/j.scr.2023.103192
Goual L., Bounasri E., Vincenti M., Amedro P., Desprat R., Bernex F., Lemaitre J.-M., Pasquie J.-L., Lacampagne A., Thireau J., Meli A.C.
Generation of patient-specific induced pluripotent stem cell lines with type 2 long QT syndrome and the KCNH2 c.379C > T pathogenic variant.
Stem Cell Res. 72:103192-103192(2023)

Cross-references
Cell line databases/resources hPSCreg; INSRMi014-A
Biological sample resources BioSamples; SAMEA114277528
Encyclopedic resources Wikidata; Q123032713
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2