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

• Published in: Inflammation and Regeneration Vol. 43; no. 1; pp. 23 - 10
• Main Authors: Qian, Emi, Uemura, Masahiro, Kobayashi, Hiroya, Nakamura, Shiho, Ozawa, Fumiko, Yoshimatsu, Sho, Ishikawa, Mitsuru, Onodera, Osamu, Morimoto, Satoru, Okano, Hideyuki
• Format: Journal Article
• Language: English
• Published: England BioMed Central 03.04.2023; BMC
• Subjects: Age; Alopecia; Arteriopathy; Baldness; CARASIL; Cerebral small vessel disease; Dementia; Disease; Fibroblasts; Hepatitis; Hereditary disease; hiPSC; HTRA1; Hydrocephalus; Hypertension; Ischemia; Lymphocytes; Magnetic resonance imaging; Medical imaging; Mental disorders; Mutation; Pathology; Proteins; Rapid Communication; Stem cells; Stroke; Veins & arteries; Japan; Arteriopathy; Stroke; hiPSC; CARASIL; HTRA1; Cerebral small vessel disease; Hereditary disease

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 are rece...