DRAVET SYNDROME

Cell Line

DS (KAIMRCi003C)

Cell Type

Human iPSCs from Saudi patient

Disease

Dravet Syndrome

Mutation

Homozygous mutation in the CPLX1 gene C.4G > A (P.Glu2Lys) and heterozygous mutation in SCN9A C.3332-3346del (P.Ser1111_Glu1115del)

Sex

Female

Age at Collection

7

Reprogramming Method

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

Number of Generated Clones

1

Stock Availability

34

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