Cellosaurus logo
expasy logo

Cellosaurus IMBAi017-A-2 (CVCL_E4GY)

[Text version]
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.Ser806Ilefs*27 (c.2411dupG) (p.Ser819Ilefs*27, 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
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)

Cross-references
Cell line databases/resources hPSCreg; IMBAi017-A-2
Biological sample resources BioSamples; SAMEA115960552
Entry history
Entry creation19-Dec-2024
Last entry update10-Apr-2025
Version number2