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Cellosaurus SDQLCHi044-A (CVCL_C1WD)

[Text version]
Cell line name SDQLCHi044-A
Accession CVCL_C1WD
Resource Identification Initiative To cite this cell line use: SDQLCHi044-A (RRID:CVCL_C1WD)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11497; SYNGAP1; Simple; p.Arg687Ter (c.2059C>T); ClinVar=VCV000411584; Zygosity=Heterozygous (PubMed=36183676).
Disease Mental retardation, autosomal dominant 5 (NCIt: C178414)
Autosomal dominant non-syndromic intellectual disability (ORDO: Orphanet_178469)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y6M
Category Induced pluripotent stem cell
Publications

PubMed=36183676; DOI=10.1016/j.scr.2022.102922
Wang Y.-X., Lv Y.-Q., Yang X.-M., Li Y., Li Z.-L., Gao Z.-F., Gai Z.-T., Liu Y.
Generation of an induced pluripotent stem cell line (SDQLCHi044-A) from a patient with autosomal dominant mental retardation type 5 harboring heterozygous mutation in SYNGAP1 gene.
Stem Cell Res. 64:102922-102922(2022)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi044-A
Encyclopedic resources Wikidata; Q114312982
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4