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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
  • Mutation; HGNC; 6572; LGI1; Simple; p.Ser473Leu (c.1418C>T); ClinVar=VCV000208480; Zygosity=Heterozygous (PubMed=29034879).
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
Tan G.W., Kondo T., Murakami N., Imamura K., Enami T., Tsukita K., Shibukawa R., Funayama M., Matsumoto R., Ikeda A., Takahashi R., Inoue H.
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 update29-Jun-2023
Version number10