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Cellosaurus CIRAi002-A (CVCL_QX85)

[Text version]
Cell line name CIRAi002-A
Synonyms HPS1732
Accession CVCL_QX85
Resource Identification Initiative To cite this cell line use: CIRAi002-A (RRID:CVCL_QX85)
Comments From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
Disease Autosomal dominant lateral temporal lobe epilepsy (NCIt: C141441)
Autosomal dominant epilepsy with auditory features (ORDO: Orphanet_101046)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 36Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29034879

Markers:
AmelogeninX
CSF1PO10,11
D2S133819,24
D3S135815,16
D5S81812,13
D7S82012
D8S117912,13
D13S3178,11
D16S5399,12
D18S5113,23
D19S43314,15.2
D21S1129,30
FGA21,22
TH016,9
TPOX8,12
vWA17

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Publications

PubMed=29034879; DOI=10.1016/j.scr.2017.07.030
Ghee Wan Tan, Takayuki Kondo, Nagahisa Murakami, Keiko Imamura, Takako Enami, Kayoko Tsukita, Ran Shibukawa, Misato Funayama, Riki Matsumoto, Akio Ikeda, Ryosuke Takahashi, Haruhisa Inoue;
Induced pluripotent stem cells derived from an autosomal dominant lateral temporal epilepsy (ADLTE) patient carrying S473L mutation in leucine-rich glioma inactivated 1 (LGI1).
Stem Cell Res. 24:12-15(2017)

Cross-references
Cell line collections (Providers) RCB; HPS1732
Cell line databases/resources hPSCreg; CIRAi002-A
Encyclopedic resources Wikidata; Q54813417
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number11