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Cellosaurus UKHGi003-A (CVCL_A1QI)

[Text version]

Cell line name UKHGi003-A
Synonyms PKE (C)
Accession CVCL_A1QI
Resource Identification Initiative To cite this cell line use: UKHGi003-A (RRID:CVCL_A1QI)
Comments From: Institute of Human Genetics Heidelberg; Heidelberg; Germany.
Population: Caucasian; German.
Derived from sampling site: Skin.
Sequence variations Mutation; HGNC; 14295; SHANK2; Unexplicit; 120 kb deletion; Zygosity=Unspecified; Note=De novo mutation (PubMed=33002717).
Disease Autism spectrum disorder (NCIt: C88412)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A1QJ ! UKHGi003-B
Sex of cell Female
Age at sampling 7Y
Category Induced pluripotent stem cell

PubMed=33002717; DOI=10.1016/j.scr.2020.102004
Cristian F.B., Koppel A., Janssen J., Utikal J.S., Rappold G.A., Berkel S.
Generation of two hiPSC lines from a patient with autism spectrum disorder harboring a 120 kb deletion in SHANK2 and two control lines from each parent.
Stem Cell Res. 49:102004-102004(2020)

Cell line databases/resources hPSCreg; UKHGi003-A
Biological sample resources BioSamples; SAMEA7390810
Other Wikidata; Q102115067
Entry history
Entry creation29-Oct-2020
Last entry update20-May-2021
Version number3