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Cellosaurus ATCi002-A (CVCL_B6RJ)

[Text version]
Cell line name ATCi002-A
Accession CVCL_B6RJ
Resource Identification Initiative To cite this cell line use: ATCi002-A (RRID:CVCL_B6RJ)
Comments From: Aegicare (Shenzhen) Technology Co; Shenzhen; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 4452; GPC4; Simple; c.877+1G>A; Zygosity=Hemizygous; Note=Splice donor mutation (PubMed=35168097).
Disease Keipert syndrome (NCIt: C186306)
Keipert syndrome (ORDO: Orphanet_2662)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=35168097; DOI=10.1016/j.scr.2022.102706
Lu X.-G., Mai J.-H., Liu L.-Q., Chen X.-Y., Shen Y.-S.
Generation of an induced pluripotent stem cell line ATCi002-A from a two-year-old Chinese boy with Keipert syndrome.
Stem Cell Res. 60:102706-102706(2022)

Cross-references
Cell line databases/resources hPSCreg; ATCi002-A
Biological sample resources BioSamples; SAMEA12057079
Encyclopedic resources Wikidata; Q111732944
Entry history
Entry creation17-Mar-2022
Last entry update29-Jun-2023
Version number4