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Cellosaurus FDZSi001-A (CVCL_QX59)

[Text version]
Cell line name FDZSi001-A
Synonyms HKLDS-iPSC
Accession CVCL_QX59
Resource Identification Initiative To cite this cell line use: FDZSi001-A (RRID:CVCL_QX59)
Comments From: Zhongshan Hospital of Fudan University; Shanghai; China.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 11773; TGFBR2; Simple; p.Arg193Trp (c.577C>T); ClinVar=VCV000213941; Zygosity=Heterozygous (PubMed=28395736).
Disease Loeys-Dietz syndrome type 2 (NCIt: C114768)
Loeys-Dietz syndrome (ORDO: Orphanet_60030)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 38Y
Category Induced pluripotent stem cell
Publications

PubMed=28395736; DOI=10.1016/j.scr.2017.03.012
Hu K., Li J., Zhu K., Chen J.-M., Liu D.-Q., Wang Y.-L., Sun Y.-X., Lai H., Wang C.-S.
Generation of an induced pluripotent stem cell line from a Loeys-Dietz syndrome patient with transforming growth factor-beta receptor-2 gene mutation.
Stem Cell Res. 20:115-117(2017)

Cross-references
Cell line databases/resources hPSCreg; FDZSi001-A
Biological sample resources BioSamples; SAMEA104012356
Encyclopedic resources Wikidata; Q54834711
Entry history
Entry creation15-Nov-2017
Last entry update29-Jun-2023
Version number9