ID   HVRDe006-A-1
AC   CVCL_YN14
SY   84e5 S1; UKERe007-A-1
DR   BioSamples; SAMEA6613186
DR   hPSCreg; HVRDe006-A-1
DR   Wikidata; Q94309930
RX   PubMed=32682288;
CC   From: Universitatsklinikum Erlangen (UKER); Erlangen; Germany.
CC   Sequence variation: Mutation; HGNC; 18040; ARID1B; Simple_edited; p.Gly647Metfs*4 (c.1939_1951del) (p.Gly660Metfs*4, c.1978_1990del); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32682288).
DI   NCIt; C35321; Coffin-Siris syndrome
DI   ORDO; Orphanet_1465; Coffin-Siris syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_B194 ! HUES 6
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 12-03-20; Last updated: 20-05-21; Version: 5
//
RX   PubMed=32682288; DOI=10.1016/j.scr.2020.101889;
RA   Boerstler T., Wend H., Krumbiegel M., Kavyanifar A., Reis A.,
RA   Lie D.C., Winner B., Turan S.;
RT   "CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout
RT   hESC lines to model Coffin-Siris syndrome.";
RL   Stem Cell Res. 47:101889-101889(2020).
//