Cellosaurus cell line INSRMi014-A (CVCL

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; HGNC:6251; KCNH2; Simple; p.Leu127Phe (c.379C>T); ClinVar=VCV000200278; Zygosity=Homozygous (PubMed=37660555).
Mutation; HGNC; 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

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=37660555

Markers:

Amelogenin	X
CSF1PO	10,13
D2S1338	17,24
D3S1358	17
D5S818	12
D7S820	9,12
D8S1179	14,15
D13S317	11
D16S539	11
D18S51	18
D19S433	12,14
D21S11	30.2,31.2
FGA	20
Penta D	12
Penta E	11,15
TH01	6,9
TPOX	8,11
vWA	14,17

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 creation

05-Oct-2023

Last entry update

19-Dec-2024

Version number