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Cellosaurus KAIMRCi004-A (CVCL_E4C4)

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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
Maryam Alowaysi, Moayad Baadhaim, Mohammad Al-Shehri, Hajar AlZahrani, Amani Badkok, Hanouf Attas, Samer Zakri, Seham Alameer, Dalal Malibari, Manal Hosawi, Mustafa Daghestani ...Show all 18 authors... , Khalid AlGhamdi, Mohammed Muharraq, Asima Zia, Jesper Tegner, Majid Alfadhel, Doaa Aboalola, Khaled N. Alsayegh; Show fewer authors
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