Cellosaurus cell line ZZUNEUi008-A (CVCL

Cross-references
Cell line name	ZZUNEUi008-A
Synonyms	FLNA-M28I-iPSC
Accession	CVCL_YM34
Resource Identification Initiative	To cite this cell line use: ZZUNEUi008-A (RRID:CVCL_YM34)
Comments	From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China. Population: Chinese; Han. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3754; FLNA; Simple; p.Met28Ile (c.84G>A); ClinVar=VCV000641298; Zygosity=Hemizygous (PubMed=32592953).
Disease	X-linked cardiac valvular dysplasia (NCIt: C173469) FLNA-related X-linked myxomatous valvular dysplasia (ORDO: Orphanet_555877)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	10Y
Category	Induced pluripotent stem cell
Publications	PubMed=32592953; DOI=10.1016/j.scr.2020.101882 Li X.-W., Lu Y.-Y., Wang J.-X., Liu M.-D., Wang M.-Y., Hu L., Du W.-T., Wang L., Jiang Z.-M., Gu X.-M., Ding Z.-R., Feng D.-G., Li L., Dong J.-Z., Zhao X.-Y. An integration-free iPSC line ZZUNEUi008-A derived from dermal fibroblasts of a child with cardiac valvular dysplasia carrying a mutation in FLNA gene. Stem Cell Res. 47:101882-101882(2020)
Cell line databases/resources	hPSCreg; ZZUNEUi008-A SKIP; SKIP005772
Encyclopedic resources	Wikidata; Q98136728
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	9