ID   SDQLCHi003-A
AC   CVCL_XC39
DR   hPSCreg; SDQLCHi003-A
DR   SKIP; SKIP005553
DR   Wikidata; Q98129448
RX   PubMed=31415973;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2962; DYNC2H1; Simple; p.Trp314Arg (c.940T>C); Zygosity=Heterozygous (PubMed=31415973).
CC   Sequence variation: Mutation; HGNC; 2962; DYNC2H1; Simple; p.Pro3388Leu (c.10163C>T) (p.Pro3381Leu, c.10142C>T); ClinVar=VCV000439631; Zygosity=Heterozygous (PubMed=31415973).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C163755; Short-rib thoracic dysplasia 3 with or without polydactyly
DI   ORDO; Orphanet_93270; Short rib-polydactyly syndrome, Saldino-Noonan type
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y3M
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31415973; DOI=10.1016/j.scr.2019.101505;
RA   Zhang H.-Y., Ma Y.-Y., Song F.-L., Yang X.-M., Li Y., Guan J.-Y.,
RA   Lv Y.-Q., Gao M., Ma J., Liu Y., Gai Z.-T.;
RT   "Generation of an induced pluripotent stem cell line (SDQLCHi003-A)
RT   from a patient with short rib-thoracic dysplasia syndrome type III
RT   carrying compound heterozygous mutations in DYNC2H1.";
RL   Stem Cell Res. 39:101505-101505(2019).
//