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

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

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...

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Bibliographic Details
Main Authors: Emi Qian, Masahiro Uemura, Hiroya Kobayashi, Shiho Nakamura, Fumiko Ozawa, Sho Yoshimatsu, Mitsuru Ishikawa, Osamu Onodera, Satoru Morimoto, Hideyuki Okano
Format: Article
Language:English
Published: BMC 2023-04-01
Series:Inflammation and Regeneration
Subjects:
Cerebral small vessel disease
hiPSC
Hereditary disease
HTRA1
CARASIL
Arteriopathy
Online Access:https://doi.org/10.1186/s41232-023-00273-7

Internet

https://doi.org/10.1186/s41232-023-00273-7

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