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Cellosaurus IMBAi017-A (CVCL_E4GW)

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Cell line name IMBAi017-A
Synonyms Pat.2 ARID1B+/- clone 2a (XX); B002-ARID1B#8
Accession CVCL_E4GW
Resource Identification Initiative To cite this cell line use: IMBAi017-A (RRID:CVCL_E4GW)
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; 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 Children:
CVCL_E4GX (IMBAi017-A-1)CVCL_E4GY (IMBAi017-A-2)CVCL_E4GZ (IMBAi017-A-3)
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-2a-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)

Cross-references
Cell line databases/resources hPSCreg; IMBAi017-A
Biological sample resources BioSamples; SAMEA115296938
Entry history
Entry creation19-Dec-2024
Last entry update10-Apr-2025
Version number2