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Cellosaurus INSRMi015-A (CVCL_C9DU)

[Text version]
Cell line name INSRMi015-A
Synonyms C1-P018
Accession CVCL_C9DU
Resource Identification Initiative To cite this cell line use: INSRMi015-A (RRID:CVCL_C9DU)
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=Heterozygous (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 Male
Age at sampling 19Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=37660555

Markers:
AmelogeninX,Y
CSF1PO10,11
D2S133820
D3S135815,16
D5S81811,12
D7S82012,13
D8S117915,16
D13S31712
D16S53910,11
D18S5112,15
D19S43314,15.2
D21S1130,31
FGA20,23
Penta D9,11
Penta E5,12
TH016,7
TPOX8,9
vWA14,18

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; INSRMi015-A
Biological sample resources BioSamples; SAMEA114268634
Encyclopedic resources Wikidata; Q123032714
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2