ID   GM01981
AC   CVCL_F589
SY   GM-1981; GM1981
DR   CLO; CLO_0032339
DR   BioSample; SAMN00807346
DR   Coriell; GM01981
DR   Wikidata; Q54837212
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7438975;
RX   PubMed=7977350;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 869; ATP7A; Simple; p.Ile220Serfs*9 (c.659_663delTCTCA) (803_807delATCTC) (p.Leu219fs); Zygosity=Hemizygous (PubMed=7977350).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75486; Menkes disease
DI   ORDO; Orphanet_565; Menkes disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F590 ! GM01982
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 15
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=7438975; DOI=10.1159/000455548;
RA   Beratis N.G., Yee M., LaBadie G.U., Hirschhorn K.;
RT   "Effect of copper on Menkes' and normal cultured skin fibroblasts.";
RL   Dev. Pharmacol. Ther. 1:305-317(1980).
//
RX   PubMed=7977350; PMCID=PMC1918324;
RA   Das S., Levinson B., Whitney S., Vulpe C.D., Packman S., Gitschier J.;
RT   "Diverse mutations in patients with Menkes disease often lead to exon
RT   skipping.";
RL   Am. J. Hum. Genet. 55:883-889(1994).
//