Cellosaurus cell line IMBAi017-A-2 (CVCL

Cellosaurus IMBAi017-A-2 (CVCL_E4GY)

Cross-references
Cell line name	IMBAi017-A-2
Synonyms	Pat.2 ARID1B+/+ clone 2d (XX)
Accession	CVCL_E4GY
Resource Identification Initiative	To cite this cell line use: IMBAi017-A-2 (RRID:CVCL_E4GY)
Comments	From: Institute of Molecular Biotechnology; Vienna; Austria. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:18040; ARID1B; Simple_corrected; p.Ser806Ilefs27 (c.2411dupG) (p.Ser819Ilefs27, c.2450dupG); ClinVar=VCV000419490; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=38718796).
Disease	Coffin-Siris syndrome (NCIt: C35321) Coffin-Siris syndrome (ORDO: Orphanet_1465)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_E4GW (IMBAi017-A)
Sex of cell	Female
Age at sampling	4Y
Category	Induced pluripotent stem cell
Web pages	Provider; IMBA; -; https://shop.vbc.ac.at/ipsc_biobank/pat-2-arid1b-clone-2d-xx.html
Publications	PubMed=38718796; DOI=10.1016/j.stem.2024.04.014 Catarina Martins-Costa, Andrea Wiegers, Vincent A. Pham, Jaydeep Sidhaye, Balint Doleschall, Maria Novatchkova, Thomas Lendl, Marielle Piber, Angela Peer, Paul Moseneder, Marlene Stuempflen ...Show all 19 authors... , Siu Yu Angela Chow, Rainer Seidl, Daniela Prayer, Romana Hoftberger, Gregor Kasprian, Yoshiho Ikeuchi, Nina Stephanie Corsini, Jurgen Arthur Knoblich; Show fewer authors 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; IMBAi017-A-2
Biological sample resources	BioSamples; SAMEA115960552
Entry history
Entry creation	19-Dec-2024
Last entry update	10-Apr-2025
Version number	2