ID   ZZUi033-A
AC   CVCL_B5G6
SY   ZZU-iPS-L1-001
DR   hPSCreg; ZZUi033-A
DR   Wikidata; Q110434445
RX   PubMed=35042084;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 6470; L1CAM; Simple; p.Ile219Val (c.655A>G); Zygosity=Hemizygous (PubMed=35042084).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=35042084
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D13S317: 8,12
ST   D16S539: 10,11
ST   D21S11: 29,30
ST   D5S818: 9,11
ST   D7S820: 8,13
ST   TH01: 7,9
ST   TPOX: 8
ST   vWA: 17
DI   NCIt; C129930; MASA syndrome
DI   ORDO; Orphanet_2466; MASA syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35042084; DOI=10.1016/j.scr.2022.102663;
RA   Li S.-H., Wang Y.-C., Sun H.-F., Wang Z.-Y., Zhang Q., Wang Y.-L.,
RA   Yang J., Shi C.-H., Yuan Y.-P., Wang H., Wang A.-R., Hu Z.-W., Li Z.,
RA   Xu Y.-M.;
RT   "Establishment of induced pluripotent stem cell line (ZZUi033-A) of a
RT   male with a novel L1CAM missense mutation.";
RL   Stem Cell Res. 59:102663-102663(2022).
//