Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene.

We generated iPSC line using skin fibroblasts obtained from a female patient affected by Joubert syndrome, caused by two compound heterozygous variants (c.143G > A; p.Gly48Glu and c.

Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c.787dupC in the AHI1 gene.

We produced an iPSC line from a patient with Joubert syndrome carrying the homozygous c.787dupC variant in the AHI1 gene. The iPSC line was obtained by reprogramming skin fibroblasts, mycoplasma-free, using Sendai-virus-based technique.

Effects of arm swing on walking abilities in healthy adults restricted in the Wernicke-Mann's limb position.

. [Purpose] Arm swing is seldom considered while designing clinical rehabilitation protocols for hemiplegic patients with upper or lower extremity disabilities, likely due to the unclear role that arm swinging plays in the ability to walk. We, therefore, aimed to investigate the effect of arm swinging on walking abilities.