Cellosaurus cell line CIRAi002-A (CVCL

Cellosaurus CIRAi002-A (CVCL_QX85)

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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; 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:

Amelogenin	X
CSF1PO	10,11
D2S1338	19,24
D3S1358	15,16
D5S818	12,13
D7S820	12
D8S1179	12,13
D13S317	8,11
D16S539	9,12
D18S51	13,23
D19S433	14,15.2
D21S11	29,30
FGA	21,22
TH01	6,9
TPOX	8,12
vWA	17

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 creation

15-Nov-2017

Last entry update

19-Dec-2024

Version number