ID   IMSUTi001-B
AC   CVCL_WW35
SY   TkSSD1#AB
DR   hPSCreg; IMSUTi001-B
DR   Wikidata; Q94317351
RX   PubMed=31255830;
CC   From: Institute of Medical Science, University of Tokyo; Tokyo; Japan.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; HGNC:11444; STXBP1; Simple; p.Arg551His (c.1652G>A); ClinVar=VCV000566474; Zygosity=Heterozygous (PubMed=31255830).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C162472; Developmental and epileptic encephalopathy 4
DI   ORDO; Orphanet_1934; Early infantile epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_WW34 ! IMSUTi001-A
OI   CVCL_WW36 ! IMSUTi001-C
SX   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=31255830; DOI=10.1016/j.scr.2019.101485;
RA   Yamamoto, Takuma
RA   Otsu, Makoto
RA   Okumura, Takashi
RA   Horie, Yumi
RA   Ueno, Yasuharu
RA   Taniguchi, Hideki
RA   Ohtaka, Manami
RA   Nakanishi, Mahito
RA   Abe, Yuki
RA   Murase, Takehiko
RA   Umehara, Takahiro
RA   Ikematsu, Kazuya
RT   "Generation of three induced pluripotent stem cell lines from
RT   postmortem tissue derived following sudden death of a young patient
RT   with STXBP1 mutation.";
RL   Stem Cell Res. 39:101485-101485(2019).
//