ID   CEBe033-A-3
AC   CVCL_C9YZ
SY   SA001 Shank3 Hetero2; ISTEMe034-A-3
DR   BioSamples; SAMEA112903631
DR   hPSCreg; CEBe033-A-3
DR   Wikidata; Q123030887
RX   PubMed=37769384;
CC   From: Institut from Stem cell Therapy and Exploration of Monogenic diseases; Corbeil-Essonnes; France.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; 14294; SHANK3 (Note=1 of 2 alleles).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C157124; Phelan-McDermid syndrome
DI   ORDO; Orphanet_48652; Monosomy 22q13.3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_B347 ! SA001
SX   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
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RX   PubMed=37769384; DOI=10.1016/j.scr.2023.103209;
RA   Chatrousse L., Poullion T., El-Kassar L., Giraud-Triboult K.,
RA   Boissart C., Sanatine P., Sommer P., Benchoua A.;
RT   "Establishment of heterozygous and homozygous SHANK3 knockout clonal
RT   pluripotent stem cells from the parental hESC line SA001 using
RT   CRISPR/Cas9.";
RL   Stem Cell Res. 72:103209-103209(2023).
//