ID   GM01361
AC   CVCL_9W81
SY   GM-1361
DR   CLO; CLO_0030903
DR   BioSample; SAMN00803816
DR   Coriell; GM01361
DR   Wikidata; Q54836781
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=30797135;
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)
SX   Male
AG   43Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 14
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
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).
//