ID   SYSUIMi003-A
AC   CVCL_B6XV
SY   MOVLD-3
DR   hPSCreg; SYSUIMi003-A
DR   Wikidata; Q112041756
RX   PubMed=35091306;
CC   From: Sun Yat-sen University Fifth Affiliated Hospital; Zhuhai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:13266; DDX24; Simple; p.Glu271Lys (c.811G>A); Zygosity=Heterozygous (PubMed=35091306).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=35091306
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D12S391: 21,22
ST   D13S317: 8,12
ST   D16S539: 10,12
ST   D18S51: 13,14
ST   D19S433: 13
ST   D1S1656: 14,16
ST   D21S11: 30
ST   D2S1338: 24,26
ST   D3S1358: 15
ST   D5S818: 9,10
ST   D6S1043: 11,19
ST   D7S820: 10,12
ST   D8S1179: 13,16
ST   FGA: 23
ST   Penta D: 9,11
ST   Penta E: 11,17
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 17,19
DI   NCIt; C186307; Multiorgan venous and lymphatic defect syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   42Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=35091306; DOI=10.1016/j.scr.2022.102679;
RA   Hu X.-J., Mao J.-J., Zhang K., Zhang H.-T., Li D., Zhou B., Shan H.,
RA   Li B., Pang P.-F.;
RT   "Generation of three lines from multiorgan venous and lymphatic defect
RT   syndrome patients.";
RL   Stem Cell Res. 60:102679-102679(2022).
//