ID   GM13675
AC   CVCL_1L39
SY   S1488
DR   CLO; CLO_0032697
DR   Coriell; GM13675
DR   Wikidata; Q54846709
RX   PubMed=7977350;
CC   Sequence variation: Mutation; HGNC; HGNC:869; ATP7A; Simple; c.4006-2A>G (IVS20AS-2,A>G); Zygosity=Hemizygous; Note=Splice acceptor mutation (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)
SX   Male
AG   Age unspecified
CA   Finite cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 14
//
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).
//