ID   BCHi003-B
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; 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: 29-06-23; Version: 5
RX   PubMed=33714067; DOI=10.1016/j.scr.2021.102276;
RA   Chen I.P.-F., Chen T., Forman T.E., Swanson A.C., O'Kelly B.,
RA   Dwyer S.A., 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).