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Cellosaurus SHCDNi003-A (CVCL_ZL96)

[Text version]

Cell line name SHCDNi003-A
Synonyms SHCDN003
Accession CVCL_ZL96
Resource Identification Initiative To cite this cell line use: SHCDNi003-A (RRID:CVCL_ZL96)
Comments From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China.
Population: Chinese; Han.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 10923; SLC16A2; Simple; c.1026+1G>A; Zygosity=Hemizygous; Note=Splice donor mutation (PubMed=32603881).
Disease Allan-Herndon-Dudley syndrome (NCIt: C118843)
Allan-Herndon-Dudley syndrome (ORDO: Orphanet_59)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=32603881; DOI=10.1016/j.scr.2020.101872
Wang A.-Q., Xi J.-M., Yuan F., Wang Y.-L., Wang S.-M., Wang C.-M., Wang C., Lin L.-L., Luo X.-N., Xu Q.-M., Yin R.-R., Cheng H.-Y., Zhang Y.-F., Sun X.-M., Yang J., Yan J.-B., Zeng F.-Y., Chen Y.-C.
Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan-Herndon-Dudley syndrome.
Stem Cell Res. 46:101872-101872(2020)

Cross-references
Cell line databases/resources hPSCreg; SHCDNi003-A
Biological sample resources BioSamples; SAMEA7044788
Encyclopedic resources Wikidata; Q98132503
Entry history
Entry creation02-Jul-2020
Last entry update20-May-2021
Version number4