ID   KAIMRCi003-B
AC   CVCL_D0H3
SY   KAIMRCi003B; DRVT-iPSC#2
DR   BioSamples; SAMEA114382885
DR   hPSCreg; KAIMRCi003-B
DR   Wikidata; Q123032794
RX   PubMed=38110787;
CC   From: King Abdullah International Medical Research Center; Jeddah; Saudi Arabia.
CC   Population: Saudi Arabian.
CC   Sequence variation: Mutation; HGNC; 2309; CPLX1; Simple; p.Glu2Lys (c.4G>A); Zygosity=Homozygous (PubMed=38110787).
CC   Sequence variation: Mutation; HGNC; 10597; SCN9A; Simple; p.Ser1111_Glu1115del (c.3332_3346delCAAGCTCCTCAGAGT); Zygosity=Heterozygous (PubMed=38110787).
CC   Omics: Deep exome analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Erythroid progenitor cell; CL=CL_0000038.
ST   Source(s): PubMed=38110787
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 11,12
ST   D16S539: 11,13
ST   D18S51: 12,16
ST   D19S433: 14.2
ST   D21S11: 28,29
ST   D2S1338: 17,23
ST   D3S1358: 15,16
ST   D5S818: 9,12
ST   D7S820: 8,13
ST   D8S1179: 13,14
ST   FGA: 21
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 17,18
DI   NCIt; C3020; Seizure disorder
DI   ORDO; Orphanet_33069; Dravet syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D0H2 ! KAIMRCi003-A
SX   Female
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 02-05-24; Version: 3
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RX   PubMed=38110787; DOI=10.1007/s13577-023-01016-z;
RA   Alowaysi M., Al-Shehri M., Badkok A., Attas H., Aboalola D.,
RA   Baadhaim M., AlZahrani H., Daghestani M., Zia A., AlGhamdi K.,
RA   AlGhamdi A., Zakri S., Aouabdi S., Tegner J., Alsayegh K.N.;
RT   "Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi
RT   patient with Dravet syndrome carrying homozygous mutation in the
RT   CPLX1 gene and heterozygous mutation in SCN9A.";
RL   Hum. Cell 37:502-510(2024).
//