Related Experiment Video
Updated: Jan 12, 2026

Author Spotlight: Advancements in Cell and Tissue Engineering for Tendon Repair
Published on: March 1, 2024
Generation of an ITPR1+/- and isogenic control induced pluripotent stem cell line for SCA15/16 model development
Bailey E Masser-Mitchell1, Hayley S McLoughlin2
1University of Michigan, Department of Human Genetics, 4909 Buhl Building, 1241 E. Catherine Street, Ann Arbor, MI 48109, United States of America.
Abstract:
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare neurodegenerative disorder caused by heterozygous deletions of ITPR1, leading to haploinsufficiency of the encoded endoplasmic reticulum membrane calcium channel. Patients present with progressive gait disturbances, abnormal eye movements, difficulties with speech and swallowing, and tremors associated with atrophy of the cerebellum. Using CRISPR/Cas9 technology, we generated ITPR1+/- and isogenic control induced pluripotent stem cell (iPSC) lines from PGP1 iPSCs for SCA15/16 model development. The clones were genotyped, karyotyped, and assessed for pluripotency and differentiation potential.
More Related Videos
11:56Generation of Mice Derived from Induced Pluripotent Stem Cells
Published on: November 29, 2012
09:39Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
Published on: December 4, 2021
Related Concept Videos
Induced Pluripotent Stem Cells
Somatic...
Induced Pluripotent Stem Cells
iPS Cell Differentiation
Somatic to iPS Cell Reprogramming
EPS and iPS Cells in Disease Research