ID   ZZUNEUi008-A
AC   CVCL_YM34
SY   FLNA-M28I-iPSC
DR   hPSCreg; ZZUNEUi008-A
DR   SKIP; SKIP005772
DR   Wikidata; Q98136728
RX   PubMed=32592953;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 3754; FLNA; Simple; p.Met28Ile (c.84G>A); ClinVar=VCV000641298; Zygosity=Hemizygous (PubMed=32592953).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173469; X-linked cardiac valvular dysplasia
DI   ORDO; Orphanet_555877; FLNA-related X-linked myxomatous valvular dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32592953; DOI=10.1016/j.scr.2020.101882;
RA   Li X.-W., Lu Y.-Y., Wang J.-X., Liu M.-D., Wang M.-Y., Hu L.,
RA   Du W.-T., Wang L., Jiang Z.-M., Gu X.-M., Ding Z.-R., Feng D.-G.,
RA   Li L., Dong J.-Z., Zhao X.-Y.;
RT   "An integration-free iPSC line ZZUNEUi008-A derived from dermal
RT   fibroblasts of a child with cardiac valvular dysplasia carrying a
RT   mutation in FLNA gene.";
RL   Stem Cell Res. 47:101882-101882(2020).
//