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Cellosaurus KEIOi003-A (CVCL_C0JG)

[Text version]
Cell line name KEIOi003-A
Synonyms SM9-1
Accession CVCL_C0JG
Resource Identification Initiative To cite this cell line use: KEIOi003-A (RRID:CVCL_C0JG)
Comments From: Keio University; Tokyo; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 9476; HTRA1; Simple; p.Arg302Gln (c.905G>A); ClinVar=VCV001332825; Zygosity=Heterozygous (PubMed=37009886).
Disease Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (NCIt: C202018)
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy (ORDO: Orphanet_199354)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 70Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=37009886

Markers:
AmelogeninX
CSF1PO12
D5S81813
D7S82011,12
D13S3178
D16S53910,11
D21S1130
TH019
TPOX8,11
vWA14,16

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Publications

PubMed=37009886; DOI=10.1186/s41232-023-00273-7; PMCID=PMC10069112
Qian E., Uemura M., Kobayashi H., Nakamura S., Ozawa F., Yoshimatsu S., Ishikawa M., Onodera O., Morimoto S., Okano H.
A human induced pluripotent stem cell model from a patient with hereditary cerebral small vessel disease carrying a heterozygous R302Q mutation in HTRA1.
Inflamm. Regen. 43:23.1-23.10(2023)

Cross-references
Cell line databases/resources hPSCreg; KEIOi003-A
Encyclopedic resources Wikidata; Q112929945
Entry history
Entry creation23-Jun-2022
Last entry update30-Jan-2024
Version number5