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, Soma
RA   Levinson, Barbara
RA   Whitney, Susan
RA   Vulpe, Christopher D.
RA   Packman, Seymour
RA   Gitschier, Jane
RT   "Diverse mutations in patients with Menkes disease often lead to exon
RT   skipping.";
RL   Am. J. Hum. Genet. 55:883-889(1994).
//