ID   SDQLCHi032-A
AC   CVCL_A4XP
DR   hPSCreg; SDQLCHi032-A
DR   Wikidata; Q107116887
RX   PubMed=33550138;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:5154; HPGD; Simple; p.Leu104Alafs*3 (c.308_309CT[1]) (c.310_311delCT); ClinVar=VCV000156027; Zygosity=Homozygous (PubMed=33550138).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C179057; Primary hypertrophic osteoarthropathy, autosomal recessive type 1
DI   ORDO; Orphanet_2796; Pachydermoperiostosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   2Y7M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=33550138; DOI=10.1016/j.scr.2021.102217;
RA   Li Y., Dong R., Wang G.-Y., Zhang H.-Y., Yang X.-M., Li Z.-L.,
RA   Guan J.-Y., Gai Z.-T., Liu Y.;
RT   "Establishment of a novel human iPSC line (SDQLCHi032-A) derived from
RT   a patient with primary hypertrophic osteoarthropathy caused by HPGD
RT   homozygous mutation.";
RL   Stem Cell Res. 52:102217-102217(2021).
//