ID   BCHi005-A
SY   HNDS0083-01 #B
DR   hPSCreg; BCHi005-A
DR   Wikidata; Q107113444
RX   PubMed=33714067;
CC   From: Children's Hospital Boston; Boston; USA.
CC   Population: Latino or Hispanic.
CC   Sequence variation: Mutation; HGNC; 11411; CDKL5; Simple; p.Arg550Ter (c.1648C>T); ClinVar=VCV000143780; Zygosity=Heterozygous (PubMed=33714067).
CC   Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
DI   NCIt; C147070; Developmental and epileptic encephalopathy 2
DI   ORDO; Orphanet_505652; CDKL5-related epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_A7KI ! BCHi005-B
SX   Female
AG   1Y10M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 17-03-22; Version: 3
RX   PubMed=33714067; DOI=10.1016/j.scr.2021.102276;
RA   Chen P.-F., Chen T., Forman T.E., Swanson A.C., O'Kelly B., Dwyer S.A.,
RA   Buttermore E.D., Kleiman R., Carrington S.J.S., Lavery D.J.,
RA   Swanson L.C., Olson H.E., Sahin M.;
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).