ID   GM02051
AC   CVCL_M993
SY   GM-2051; GM17334
DR   CLO; CLO_0013616
DR   CLO; CLO_0032552
DR   BioSample; SAMN00807432
DR   Coriell; GM02051
DR   Coriell; GM17334
DR   Wikidata; Q54837267
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
CC   Part of: Human variation panel.
CC   Population: Arab.
CC   Sequence variation: Mutation; HGNC; 6826; MAN2B1; Simple; p.His72Leu (c.215A>T) (H71L); ClinVar=VCV000001684; Zygosity=Homozygous (Coriell=GM02051).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84548; Alpha-mannosidosis
DI   ORDO; Orphanet_61; Alpha-mannosidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 17
//
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).
//