BIOTINTHIAMINE-RESPONSIVE BASAL GANGLIA DISEASE

Cell Line

BTBGD-5

Cell Type

Human iPSCs from Saudi patient (Carrier)

Disease

BiotinThiamine-Responsive Basal Ganglia disease

Mutation

homozygous mutation in the SCL19A3 gene c.1264A>G P.(Thr422Ala)

Sex

Male

Age at Collection

35

Reprogramming Method

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

Number of Generated Clones

2

Stock Availability

32

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