ID   IMBAi017-A
AC   CVCL_E4GW
SY   Pat.2 ARID1B+/- clone 2a (XX); B002-ARID1B#8
DR   BioSamples; SAMEA115296938
DR   hPSCreg; IMBAi017-A
RX   PubMed=38718796;
WW   https://shop.vbc.ac.at/ipsc_biobank/pat-2-arid1b-clone-2a-xx.html
CC   From: Institute of Molecular Biotechnology; Vienna; Austria.
CC   Sequence variation: Mutation; HGNC; HGNC:18040; ARID1B; Simple; p.Ser806Ilefs*27 (c.2411dupG) (p.Ser819Ilefs*27, c.2450dupG); ClinVar=VCV000419490; Zygosity=Heterozygous (PubMed=38718796).
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   Female
AG   4Y
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).
//