iPSC line name | KEIOi003-A (unique name at hPSCreg) SM9-1 (alternative name) |
Institution | Keio University School of Medicine, Tokyo, Japan |
Origin information | Species: human, Sex: female, Age: 70 years old, Ethnicity: Japanese Cell source: peripheral blood mononuclear cells |
Clonality | Clonal |
Method of reprogramming | Electroporation using the episomal vectors: pCE-hOCT3/4, pCE-hSK, pCE-hUL, pCE-mp53DD, and pCXB-EBNA1 |
Name of transgenes | OCT3/4, SOX2, KLF4, L-MYC, LIN28, mutant Trp53 (removed after the establishment) |
Genetic modification | Spontaneous mutation HTRA1, c.905G>A, p.R302Q, heterozygous |
Associated disease | Heterozygous HTRA1-related cerebral small vessel disease |
Summary of clinical characteristics | History (age at onset): Stroke (53 years old), depression (63 years old), normal pressure hydrocephalus (64 years old), and cervical spondylosis Examination findings: •No alopecia or hypertension •Higher brain dysfunction, parkinsonism, hyperactive tendon reflexes, pathologic reflexes, and cognitive function decline •The Japanese version of the Montreal Cognitive Assessment (MoCA-J) score: 12 points (71 years old) •Brain MRI: Ischemic changes in the bilateral cerebral white matter, old infarcts in the basal ganglia and left thalamus, diffused microbleeds (69 years old) |
Donor screening for infections | Negative for human immunodeficiency virus (HIV) antibody, hepatitis B surface (HBs) antigen, hepatitis C virus (HCV) antibody, serological tests for syphilis (STS) and treponema pallidum hemagglutination test (TPHA) |