Cell Line

BTBGD (KAIMRCi004)

Cell Type

Human iPSCs from Saudi patient

Disease

BiotinThiamine-Responsive Basal Ganglia disease

Mutation

Homozygous mutation in the SCL19A3 gene

c.1264A>G P.(Thr422Ala)

Sex

Female

Age at Collection

10

Reprogramming Method

Erythroid progenitor cells (EPCs) (CD71/CD235 positive cells)

Number of Generated Clones

2

Stock Availability

10

Recommended Culture Type and Media

Adherent. mTeSR plus

Cell Morphology

Tightly packed colonies with smooth edges, small round cells, large nuclei with a high nucleus-to-cytoplasm ratio, and minimal cytoplasm, reflecting their pluripotency

Common Applications

-      Disease Modeling

-      Drug Discovery and Development

-      Regenerative Medicine

-      Tissue Engineering

-      Toxicology Testing

-      Gene Therapy Research

-      Personalized Medicine

-      Developmental Biology Studies

-      Bioprinting

-      Cell Therapy