TY - JOUR
T1 - Generation and characterization of iPSC lines (UOHi003-A, UOHi002-A) from a patient with SHANK3 mutation and her healthy mother
AU - Nayak, Ritu
AU - Rosh, Idan
AU - Rabinski, Tatiana
AU - Falik, Daniel
AU - Mendel Percia, Menachem
AU - Stern, Shani
N1 - Publisher Copyright:
© 2022 The Authors
PY - 2022/10
Y1 - 2022/10
N2 - Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes global developmental disability, delayed or absent speech, and an autism spectrum disorder. The loss of function of one copy of SHANK3, which codes for a scaffolding protein found in the postsynaptic density of synapses, has been identified as the main cause of PMS. We report the generation and characterization of two induced pluripotent stem cell (iPSC) lines derived from one patient with a SHANK3 mutation and the patient's mother as a control. Both lines expressed pluripotency markers, differentiated into the three germ layers, retained the disease-causing mutation, and displayed normal karyotypes.
AB - Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes global developmental disability, delayed or absent speech, and an autism spectrum disorder. The loss of function of one copy of SHANK3, which codes for a scaffolding protein found in the postsynaptic density of synapses, has been identified as the main cause of PMS. We report the generation and characterization of two induced pluripotent stem cell (iPSC) lines derived from one patient with a SHANK3 mutation and the patient's mother as a control. Both lines expressed pluripotency markers, differentiated into the three germ layers, retained the disease-causing mutation, and displayed normal karyotypes.
UR - http://www.scopus.com/inward/record.url?scp=85136568707&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2022.102899
DO - 10.1016/j.scr.2022.102899
M3 - Article
C2 - 36044808
AN - SCOPUS:85136568707
SN - 1873-5061
VL - 64
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 102899
ER -