ID   IMBAi016-A
AC   CVCL_E4GQ
SY   Pat.1 ARID1B+/- clone 1a (XY); B001-ARID1B#10
DR   BioSamples; SAMEA115296869
DR   hPSCreg; IMBAi016-A
RX   PubMed=38718796;
WW   https://shop.vbc.ac.at/ipsc_biobank/pat-1-arid1b-clone-1a-xy.html
CC   From: Institute of Molecular Biotechnology; Vienna; Austria.
CC   Sequence variation: Mutation; HGNC; HGNC:18040; ARID1B; Unexplicit; Ex8-20 del; Zygosity=Heterozygous (PubMed=38718796).
CC   Donor information: Established from a patient with a 6q25 microdeletion syndrome.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C35321; Coffin-Siris syndrome
DI   ORDO; Orphanet_1465; Coffin-Siris syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=38718796; DOI=10.1016/j.stem.2024.04.014;
RA   Martins-Costa C., Wiegers A., Pham V.A., Sidhaye J., Doleschall B.,
RA   Novatchkova M., Lendl T., Piber M., Peer A., Moseneder P., Stuempflen M.,
RA   Chow S.Y.A., Seidl R., Prayer D., Hoftberger R., Kasprian G., Ikeuchi Y.,
RA   Corsini N.S., Knoblich J.A.;
RT   "ARID1B controls transcriptional programs of axon projection in an
RT   organoid model of the human corpus callosum.";
RL   Cell Stem Cell 31:866-885.e14(2024).
//