ID   TRNDi005-A
AC   CVCL_UL24
SY   HT438A
DR   hPSCreg; TRNDi005-A
RX   PubMed=30797135;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Sequence variation: Heterozygous for GALNS p.Arg61Trp (c.181C>T) and p.Trp405_Thr406del (c.1213_1218delTGGACC) (WT405del) (PubMed=30797135).
DI   NCIt; C84901; Mucopolysaccharidosis type IVA
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_9W81 ! GM01361
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 24-05-19; Version: 2
//
RX   PubMed=30797135; DOI=10.1016/j.scr.2019.101408;
RA   Li R., Baskfield A., Beers J., Zou J., Liu C., Almeciga-Diaz C.J.,
RA   Zheng W.;
RT   "Generation of an induced pluripotent stem cell line (TRNDi005-A) from
RT   a mucopolysaccharidosis type IVA (MPS IVA) patient carrying compound
RT   heterozygous p.R61W and p.WT405del mutations in the GALNS gene.";
RL   Stem Cell Res. 36:101408-101408(2019).
//