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Cellosaurus SHCDNi004-A (CVCL_A1WV)

[Text version]

Cell line name SHCDNi004-A
Synonyms SHCDN004
Accession CVCL_A1WV
Resource Identification Initiative To cite this cell line use: SHCDNi004-A (RRID:CVCL_A1WV)
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; 5996; IL1RAPL1; Simple; p.Leu349Serfs*7 (c.1043_1044dup); Zygosity=Hemizygous; Note=De novo mutation (PubMed=33774333).
Disease Mental retardation, X-linked 21/34 (NCIt: C179707)
X-linked non-syndromic intellectual disability (ORDO: Orphanet_777)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell

PubMed=33774333; DOI=10.1016/j.scr.2021.102292
Yuan F., Wang S.-M., Wang Y.-L., Wang A.-Q., Wang C., Luo X.-N., Xu Q.-M., Yin R.-R., Cheng H.-Y., Wang C.-M., Guo M., Zhang Y.-F., Xi J.-M., Yang J., Sun X.-M., Yan J.-B., Zeng F.-Y., Chen Y.-C.
Generation and characterization of the induced pluripotent stem cell line SHCDNi004-A from a ten-year-old Chinese boy with X-linked mental retardation in IL1RAPL1 deficiency.
Stem Cell Res. 53:102292-102292(2021)

Cell line databases/resources hPSCreg; SHCDNi004-A
Encyclopedic resources Wikidata; Q105511067
Entry history
Entry creation12-Jan-2021
Last entry update23-Sep-2021
Version number3