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Cellosaurus KAIMRCi003-A (CVCL_D0H2)

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Cell line name KAIMRCi003-A
Synonyms KAIMRCi003A; DRVT-iPSC#1
Accession CVCL_D0H2
Resource Identification Initiative To cite this cell line use: KAIMRCi003-A (RRID:CVCL_D0H2)
Comments From: King Abdullah International Medical Research Center; Jeddah; Saudi Arabia.
Population: Arab; Saudi Arabian.
Omics: Genomics; Whole exome sequencing.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Erythroid progenitor cell; CL=CL_0000038.
Sequence variations
  • Mutation; HGNC; HGNC:2309; CPLX1; Simple; p.Glu2Lys (c.4G>A); Zygosity=Homozygous (PubMed=38110787).
  • Mutation; HGNC; 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_D0H3 ! KAIMRCi003-B
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

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Publications

PubMed=38110787; DOI=10.1007/s13577-023-01016-z; PMCID=PMC10890977
Maryam Alowaysi, Mohammad Al-Shehri, Amani Badkok, Hanouf Attas, Doaa Aboalola, Moayad Baadhaim, Hajar AlZahrani, Mustafa Daghestani, Asima Zia, Khalid AlGhamdi, Asayil AlGhamdi ...Show all 15 authors... , Samer Zakri, Sihem Aouabdi, Jesper Tegner, Khaled N. Alsayegh; Show fewer authors
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-A
Biological sample resources BioSamples; SAMEA114382631
Encyclopedic resources Wikidata; Q123032793
Entry history
Entry creation05-Oct-2023
Last entry update10-Apr-2025
Version number5