Cell Line

AOAT2-1

Cell Type

Human iPSCs from Saudi patient

Disease

Ataxia Oculomotor Apraxia Type 2

Mutation

Homozygous mutation in SETX gene c.2143_2144delGT (p.Val715Lysfs*22)

Sex

Male

Age at Collection

31

Reprogramming Method

Peripheral blood mononuclear cells (PBMCs)

Number of Generated Clones

5

Stock Availability

14

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