Cellosaurus cell line FDZSi001-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; FDZSi001-A
Biological sample resources	BioSamples; SAMEA104012356
Encyclopedic resources	Wikidata; Q54834711
Entry history
Entry creation	15-Nov-2017
Last entry update	19-Dec-2024
Version number	10