A human induced pluripotent stem cell model from a patient with hereditary cerebral small vessel disease carrying a heterozygous R302Q mutation in HTRA1

• Main Authors: Emi Qian (Author), Masahiro Uemura (Author), Hiroya Kobayashi (Author), Shiho Nakamura (Author), Fumiko Ozawa (Author), Sho Yoshimatsu (Author), Mitsuru Ishikawa (Author), Osamu Onodera (Author), Satoru Morimoto (Author), Hideyuki Okano (Author)
• Format: Book
• Published: BMC, 2023-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an inherited cerebral small vessel disease (CSVD) caused by biallelic mutations in the high-temperature requirement serine peptidase A1 (HTRA1) gene. Even heterozygous mutations in HTRA1...