ID   IMSUTi001-A
AC   CVCL_WW34
SY   TkSSD1#AA
DR   hPSCreg; IMSUTi001-A
DR   Wikidata; Q94317346
RX   PubMed=31255830;
CC   From: Institute of Medical Science, University of Tokyo; Tokyo; Japan.
CC   Population: Asian.
CC   Sequence variation: Mutation; 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_WW35 ! IMSUTi001-B
OI   CVCL_WW36 ! IMSUTi001-C
SX   Female
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31255830; DOI=10.1016/j.scr.2019.101485;
RA   Yamamoto T., Otsu M., Okumura T., Horie Y., Ueno Y., Taniguchi H.,
RA   Ohtaka M., Nakanishi M., Abe Y., Murase T., Umehara T., Ikematsu K.;
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).
//