ID   BCHi003-B
AC   CVCL_A7KE
SY   HNDS0059-01 #C
DR   hPSCreg; BCHi003-B
DR   Wikidata; Q107113441
RX   PubMed=33714067;
CC   From: Children's Hospital Boston; Boston; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11411; CDKL5; Simple; p.Leu629Ter (c.1886T>A); Zygosity=Mosaic (PubMed=33714067).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C147070; Developmental and epileptic encephalopathy 2
DI   ORDO; Orphanet_505652; CDKL5-related epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A7KD ! BCHi003-A
SX   Male
AG   2Y11M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=33714067; DOI=10.1016/j.scr.2021.102276; PMCID=PMC8953930;
RA   Chen, Ivy Pin-Fang
RA   Chen, Teresa
RA   Forman, Taylor E.
RA   Swanson, Amanda C.
RA   O'Kelly, Benjamin
RA   Dwyer, Sean A.
RA   Buttermore, Elizabeth D.
RA   Kleiman, Robin
RA   Carrington, Sheridan J.S.
RA   Lavery, Daniel J.
RA   Swanson, Lindsay C.
RA   Olson, Heather Elisa
RA   Sahin, Mustafa
RT   "Generation and characterization of human induced pluripotent stem
RT   cells (iPSCs) from three male and three female patients with CDKL5
RT   deficiency disorder (CDD).";
RL   Stem Cell Res. 53:102276-102276(2021).
//