ID   IBMS-iPSC-033-02
AC   CVCL_QY33
SY   IBMSi009-A
DR   BCRC; SC81060
DR   BCRC; SC81061
DR   hPSCreg; IBMSi009-A
DR   SKIP; SKIP003162
DR   SKIP; SKIP005656
DR   SKIP; SKIP005657
DR   Wikidata; Q54897201
RX   PubMed=29414417;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 7758; NEU1; Simple; p.Ser182Gly (c.544A>G); ClinVar=VCV000430337; Zygosity=Unspecified (PubMed=29414417).
CC   Sequence variation: Mutation; HGNC; 7758; NEU1; Simple; p.Leu223Glufs*76 (c.667_679delCTGGAGCGGGACG); Zygosity=Unspecified (PubMed=29414417).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=29414417
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 10,11
ST   D16S539: 11,13
ST   D18S51: 16,21
ST   D19S433: 13,16.2
ST   D21S11: 29,31.2
ST   D2S1338: 20,25
ST   D3S1358: 16,17
ST   D5S818: 9
ST   D7S820: 11,12
ST   D8S1179: 10
ST   FGA: 22
ST   TH01: 6,9
ST   TPOX: 9
ST   vWA: 14,17
DI   NCIt; C125596; Neuraminidase deficiency
DI   ORDO; Orphanet_812; Sialidosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=29414417; DOI=10.1016/j.scr.2018.01.024;
RA   Liu S.-P., Hsu Y.-H., Huang C.-Y., Ho M.-C., Cheng Y.-C., Wen C.-H.,
RA   Lu H.-E., Tsai C.-H., Shyu W.-C., Hsieh P.C.-H.;
RT   "Generation of novel induced pluripotent stem cell (iPSC) line from a
RT   16-year-old sialidosis patient with NEU-1 gene mutation.";
RL   Stem Cell Res. 28:39-43(2018).
//