ID   GM00521
AC   CVCL_CX25
SY   GM-521
DR   Coriell; GM00521
DR   Wikidata; Q54836287
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Thr284Leufs*5 (c.850delA) (1012delA); ClinVar=VCV000038434; Zygosity=Heterozygous (from familial inference of GM03066).
CC   Sequence variation: Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Cys528Valfs*19 (c.1581delC) (1744delC); ClinVar=VCV000038414; Zygosity=Heterozygous (from familial inference of GM03066).
CC   Discontinued: Coriell; GM00521; probable.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C61270; I-cell disease
DI   ORDO; Orphanet_576; Mucolipidosis type II
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_CX24 ! GM00087
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 8
//
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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//