ID   KAIMRCi004-A
AC   CVCL_E4C4
SY   BTBGD-iPSC#1
DR   BioSamples; SAMEA115112560
DR   hPSCreg; KAIMRCi004-A
RX   PubMed=38980565;
CC   From: King Abdullah International Medical Research Center; Jeddah; Saudi Arabia.
CC   Population: Arab; Saudi Arabian.
CC   Sequence variation: Mutation; HGNC; HGNC:16266; SLC19A3; Simple; p.Thr422Ala (c.1264A>G); ClinVar=VCV000004563; Zygosity=Homozygous (PubMed=38980565).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
CC   Cell type: Erythroid progenitor cell; CL=CL_0000038.
ST   Source(s): PubMed=38980565
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 8,13
ST   D16S539: 9,11
ST   D18S51: 12,13
ST   D19S433: 13.2,14.2
ST   D21S11: 29,32.2
ST   D2S1338: 23
ST   D3S1358: 15,17
ST   D5S818: 11,13
ST   D7S820: 8
ST   D8S1179: 11
ST   FGA: 18,20
ST   TH01: 6,9.3
ST   TPOX: 8
ST   vWA: 14,16
DI   NCIt; C212885; Biotin-thiamine-responsive basal ganglia disease
DI   ORDO; Orphanet_65284; Biotin-thiamine-responsive basal ganglia disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_E4C5 ! KAIMRCi004-B
SX   Female
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=38980565; DOI=10.1007/s13577-024-01097-4; PMCID=PMC11341592;
RA   Alowaysi M., Baadhaim M., Al-Shehri M., AlZahrani H., Badkok A.,
RA   Attas H., Zakri S., Alameer S., Malibari D., Hosawi M., Daghestani M.,
RA   AlGhamdi K., Muharraq M., Zia A., Tegner J., Alfadhel M., Aboalola D.,
RA   Alsayegh K.N.;
RT   "Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a
RT   Saudi patient with biotin-thiamine-responsive basal ganglia disease
RT   (BTBGD) carrying homozygous pathogenic missense variant in the
RT   SCL19A3 gene.";
RL   Hum. Cell 37:1567-1577(2024).
//