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Cellosaurus KAIMRCi004-A (CVCL_E4C4)

[Text version]
Cell line name KAIMRCi004-A
Synonyms BTBGD-iPSC#1
Accession CVCL_E4C4
Resource Identification Initiative To cite this cell line use: KAIMRCi004-A (RRID:CVCL_E4C4)
Comments From: King Abdullah International Medical Research Center; Jeddah; Saudi Arabia.
Population: Arab; Saudi Arabian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Erythroid progenitor cell; CL=CL_0000038.
Sequence variations
Disease Biotin-thiamine-responsive basal ganglia disease (NCIt: C212885)
Biotin-thiamine-responsive basal ganglia disease (ORDO: Orphanet_65284)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_E4C5 ! KAIMRCi004-B
Sex of cell Female
Age at sampling 10Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=38980565

Markers:
AmelogeninX
CSF1PO12
D2S133823
D3S135815,17
D5S81811,13
D7S8208
D8S117911
D13S3178,13
D16S5399,11
D18S5112,13
D19S43313.2,14.2
D21S1129,32.2
FGA18,20
TH016,9.3
TPOX8
vWA14,16

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Publications

PubMed=38980565; DOI=10.1007/s13577-024-01097-4; PMCID=PMC11341592
Alowaysi M., Baadhaim M., Al-Shehri M., AlZahrani H., Badkok A., Attas H., Zakri S., Alameer S., Malibari D., Hosawi M., Daghestani M., AlGhamdi K., Muharraq M., Zia A., Tegner J., Alfadhel M., Aboalola D., Alsayegh K.N.
Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with biotin-thiamine-responsive basal ganglia disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene.
Hum. Cell 37:1567-1577(2024)

Cross-references
Cell line databases/resources hPSCreg; KAIMRCi004-A
Biological sample resources BioSamples; SAMEA115112560
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1