ID   TRNDi005-A
AC   CVCL_UL24
SY   HT438A
DR   hPSCreg; TRNDi005-A
DR   Wikidata; Q98133593
RX   PubMed=30797135;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Sequence variation: Mutation; HGNC; 4122; GALNS; Simple; p.Arg61Trp (c.181C>T); ClinVar=VCV000381663; Zygosity=Heterozygous (PubMed=30797135).
CC   Sequence variation: Mutation; HGNC; 4122; GALNS; Simple; p.Trp405_Thr406del (c.1207_1212TGGACC[1]) (c.1213_1218delTGGACC) (p.403_404WT[1]) (WT405del); ClinVar=VCV000566964; Zygosity=Heterozygous (PubMed=30797135).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84901; Mucopolysaccharidosis type IVA
DI   ORDO; Orphanet_309297; Mucopolysaccharidosis type 4A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9W81 ! GM01361
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 10
//
RX   PubMed=30797135; DOI=10.1016/j.scr.2019.101408;
RA   Li R., Baskfield A., Beers J.K., Zou J.-H., Liu C.-Y.,
RA   Almeciga-Diaz C.J., 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).
//