ID   KEIOi003-A
AC   CVCL_C0JG
SY   SM9-1
DR   hPSCreg; KEIOi003-A
DR   Wikidata; Q112929945
RX   PubMed=37009886;
CC   From: Keio University; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 9476; HTRA1; Simple; p.Arg302Gln (c.905G>A); ClinVar=VCV001332825; Zygosity=Heterozygous (PubMed=37009886).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=37009886
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 8
ST   D16S539: 10,11
ST   D21S11: 30
ST   D5S818: 13
ST   D7S820: 11,12
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 14,16
DI   NCIt; C202018; Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
DI   ORDO; Orphanet_199354; Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   70Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 30-01-24; Version: 5
//
RX   PubMed=37009886; DOI=10.1186/s41232-023-00273-7; PMCID=PMC10069112;
RA   Qian E., Uemura M., Kobayashi H., Nakamura S., Ozawa F.,
RA   Yoshimatsu S., Ishikawa M., Onodera O., Morimoto S., Okano H.;
RT   "A human induced pluripotent stem cell model from a patient with
RT   hereditary cerebral small vessel disease carrying a heterozygous
RT   R302Q mutation in HTRA1.";
RL   Inflamm. Regen. 43:23.1-23.10(2023).
//