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Cellosaurus IMBAi017-A-3 (CVCL_E4GZ)

[Text version]
Cell line name IMBAi017-A-3
Synonyms Pat.2 ARID1B+/- clone 2b (XX)
Accession CVCL_E4GZ
Resource Identification Initiative To cite this cell line use: IMBAi017-A-3 (RRID:CVCL_E4GZ)
Comments From: Institute of Molecular Biotechnology; Vienna; Austria.
Characteristics: Control cell line. Went through a CRISPR/Cas9 genome editing procedure but did not get edited (PubMed=38718796).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:18040; ARID1B; Simple; p.Ser806Ilefs*27 (c.2411dupG) (p.Ser819Ilefs*27, c.2450dupG); ClinVar=VCV000419490; 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)
Hierarchy Parent: CVCL_E4GW (IMBAi017-A)
Sex of cell Female
Age at sampling 4Y
Category Induced pluripotent stem cell
Web pages https://shop.vbc.ac.at/ipsc_biobank/pat-2-arid1b-clone-2b-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-3
Biological sample resources BioSamples; SAMEA117399235
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1