ID   GM02048
AC   CVCL_M927
SY   GM-2048
DR   CLO; CLO_0032549
DR   BioSample; SAMN00807426
DR   Coriell; GM02048
DR   Wikidata; Q54837263
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 13356; MCOLN1; Simple; c.406-2A>G (IVS3AS-2A>G); ClinVar=VCV000005131; Zygosity=Heterozygous; Note=Splice acceptor mutation (from autologous cell line GM02533).
CC   Sequence variation: Mutation; HGNC; 13356; MCOLN1; Simple; c.511del6434 (Ex1-7del) (delta6432); Zygosity=Heterozygous (from autologous cell line GM02533).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84896; Mucolipidosis type IV
DI   ORDO; Orphanet_578; Mucolipidosis type IV
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_M926 ! GM02533
SX   Female
AG   2Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 18
//
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).
//