Cellosaurus cell line IMBAi016-A (CVCL

Cross-references
Cell line name	IMBAi016-A
Synonyms	Pat.1 ARID1B+/- clone 1a (XY); B001-ARID1B#10
Accession	CVCL_E4GQ
Resource Identification Initiative	To cite this cell line use: IMBAi016-A (RRID:CVCL_E4GQ)
Comments	From: Institute of Molecular Biotechnology; Vienna; Austria. Donor information: Established from a patient with a 6q25 microdeletion syndrome. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:18040; ARID1B; Unexplicit; Ex8-20 del; Zygosity=Heterozygous (PubMed=38718796).
Disease	Coffin-Siris syndrome (NCIt: C35321) Coffin-Siris syndrome (ORDO: Orphanet_1465)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3Y
Category	Induced pluripotent stem cell
Web pages	https://shop.vbc.ac.at/ipsc_biobank/pat-1-arid1b-clone-1a-xy.html
Publications	PubMed=38718796; DOI=10.1016/j.stem.2024.04.014 Martins-Costa C., Wiegers A., Pham V.A., Sidhaye J., Doleschall B., Novatchkova M., Lendl T., Piber M., Peer A., Moseneder P., Stuempflen M., Chow S.Y.A., Seidl R., Prayer D., Hoftberger R., Kasprian G., Ikeuchi Y., Corsini N.S., Knoblich J.A. ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum. Cell Stem Cell 31:866-885.e14(2024)
Cell line databases/resources	hPSCreg; IMBAi016-A
Biological sample resources	BioSamples; SAMEA115296869
Entry history
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1