ID   UKHGi003-B
SY   PKE (D)
DR   BioSamples; SAMEA7390811
DR   hPSCreg; UKHGi003-B
DR   Wikidata; Q102115070
RX   PubMed=33002717;
CC   From: Institute of Human Genetics Heidelberg; Heidelberg; Germany.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 14295; SHANK2; Unexplicit; 120 kb deletion; Zygosity=Unspecified; Note=De novo mutation (PubMed=33002717).
CC   Derived from sampling site: Skin.
DI   NCIt; C88412; Autism spectrum disorder
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 20-05-21; Version: 3
RX   PubMed=33002717; DOI=10.1016/j.scr.2020.102004;
RA   Cristian F.B., Koppel A., Janssen J., Utikal J.S., Rappold G.A.,
RA   Berkel S.;
RT   "Generation of two hiPSC lines from a patient with autism spectrum
RT   disorder harboring a 120 kb deletion in SHANK2 and two control lines
RT   from each parent.";
RL   Stem Cell Res. 49:102004-102004(2020).