Cellosaurus cell line KEIOi003-A (CVCL

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; 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:

Amelogenin	X
CSF1PO	12
D5S818	13
D7S820	11,12
D13S317	8
D16S539	10,11
D21S11	30
TH01	9
TPOX	8,11
vWA	14,16

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 creation

23-Jun-2022

Last entry update

19-Dec-2024

Version number