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Cellosaurus HVRDe006-A-1 (CVCL_YN14)

[Text version]

Cell line name HVRDe006-A-1
Synonyms 84e5 S1; UKERe007-A-1
Accession CVCL_YN14
Resource Identification Initiative To cite this cell line use: HVRDe006-A-1 (RRID:CVCL_YN14)
Comments From: Universitatsklinikum Erlangen (UKER); Erlangen; Germany.
Sequence variations Mutation; HGNC; 18040; ARID1B; Simple_edited; p.Gly647Metfs*4 (c.1939_1951del) (p.Gly660Metfs*4, c.1978_1990del); 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
Boerstler T., Wend H., Krumbiegel M., Kavyanifar A., Reis A., Lie D.C., Winner B., Turan S.
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-1
Biological sample resources BioSamples; SAMEA6613186
Other Wikidata; Q94309930
Entry history
Entry creation12-Mar-2020
Last entry update20-May-2021
Version number5