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Cellosaurus KAIMRCi003-B (CVCL_D0H3)

[Text version]
Cell line name KAIMRCi003-B
Synonyms KAIMRCi003B; DRVT-iPSC#2
Accession CVCL_D0H3
Resource Identification Initiative To cite this cell line use: KAIMRCi003-B (RRID:CVCL_D0H3)
Comments From: King Abdullah International Medical Research Center; Jeddah; Saudi Arabia.
Population: Saudi Arabian.
Omics: Deep exome analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Erythroid progenitor cell; CL=CL_0000038.
Sequence variations
  • Mutation; HGNC; 2309; CPLX1; Simple; p.Glu2Lys (c.4G>A); Zygosity=Homozygous (PubMed=38110787).
  • Mutation; HGNC; 10597; SCN9A; Simple; p.Ser1111_Glu1115del (c.3332_3346delCAAGCTCCTCAGAGT); Zygosity=Heterozygous (PubMed=38110787).
Disease Seizure disorder (NCIt: C3020)
Dravet syndrome (ORDO: Orphanet_33069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D0H2 ! KAIMRCi003-A
Sex of cell Female
Age at sampling 7Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=38110787

Markers:
AmelogeninX
CSF1PO10,12
D2S133817,23
D3S135815,16
D5S8189,12
D7S8208,13
D8S117913,14
D13S31711,12
D16S53911,13
D18S5112,16
D19S43314.2
D21S1128,29
FGA21
TH016,7
TPOX8,11
vWA17,18

Run an STR similarity search on this cell line
Publications

PubMed=38110787; DOI=10.1007/s13577-023-01016-z; PMCID=PMC10890977
Alowaysi M., Al-Shehri M., Badkok A., Attas H., Aboalola D., Baadhaim M., AlZahrani H., Daghestani M., Zia A., AlGhamdi K., AlGhamdi A., Zakri S., Aouabdi S., Tegner J., Alsayegh K.N.
Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A.
Hum. Cell 37:502-510(2024)

Cross-references
Cell line databases/resources hPSCreg; KAIMRCi003-B
Biological sample resources BioSamples; SAMEA114382885
Encyclopedic resources Wikidata; Q123032794
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3