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Cellosaurus HVRDe006-A-4 (CVCL_YN72)

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Cell line name HVRDe006-A-4
Synonyms 84e5 S10; UKERe007-A-4
Accession CVCL_YN72
Resource Identification Initiative To cite this cell line use: HVRDe006-A-4 (RRID:CVCL_YN72)
Comments From: Universitatsklinikum Erlangen (UKER); Erlangen; Germany.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:18040; ARID1B; Simple_edited; p.Gly647Ter (c.1939_1946del) (p.Gly660Ter, c.1978_1985del); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32682288).
Disease Coffin-Siris syndrome (NCIt: C35321)
Coffin-Siris syndrome (ORDO: Orphanet_1465)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B194 (HUES 6)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=32682288; DOI=10.1016/j.scr.2020.101889
Tom Boerstler, Holger Wend, Mandy Krumbiegel, Atria Kavyanifar, Andre Reis, Dieter Chi-Chung Lie, Beate Winner, Soeren Turan;
CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome.
Stem Cell Res. 47:101889-101889(2020)

Cross-references
Cell line databases/resources hPSCreg; HVRDe006-A-4
Biological sample resources BioSamples; SAMEA6621868
Encyclopedic resources Wikidata; Q94309935
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number8