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Cellosaurus IMBAi016-A (CVCL_E4GQ)

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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 Provider; IMBA; -; 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
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)

Cross-references
Cell line databases/resources hPSCreg; IMBAi016-A
Biological sample resources BioSamples; SAMEA115296869
Entry history
Entry creation19-Dec-2024
Last entry update10-Apr-2025
Version number2