TY - JOUR
T1 - Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome
AU - Altieri, Filomena
AU - D'Anzi, Angela
AU - Martello, Francesco
AU - Tardivo, Silvia
AU - Spasari, Iolanda
AU - Ferrari, Daniela
AU - Bernardini, Laura
AU - Lamorte, Giuseppe
AU - Mazzoccoli, Gianluigi
AU - Valente, Enza Maria
AU - Vescovi, Angelo Luigi
AU - Rosati, Jessica
PY - 2019/7/1
Y1 - 2019/7/1
N2 - Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the group of disorders known as ciliopathies, which are caused by mutations in genes encoding proteins of the primary cilium and basal body. Human induced pluripotent stem cells (hiPSCs) from a patient carrying a homozygous missense mutation (c.2168G > A) in AHI1, the first gene to be associated with JS, were produced using a virus-free protocol.
AB - Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the group of disorders known as ciliopathies, which are caused by mutations in genes encoding proteins of the primary cilium and basal body. Human induced pluripotent stem cells (hiPSCs) from a patient carrying a homozygous missense mutation (c.2168G > A) in AHI1, the first gene to be associated with JS, were produced using a virus-free protocol.
UR - http://www.scopus.com/inward/record.url?scp=85067073764&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85067073764&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2019.101480
DO - 10.1016/j.scr.2019.101480
M3 - Article
AN - SCOPUS:85067073764
VL - 38
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 101480
ER -