Cellosaurus cell line GM13670 (CVCL

Cross-references
Cell line name	GM13670
Synonyms	S1407
Accession	CVCL_1L36
Resource Identification Initiative	To cite this cell line use: GM13670 (RRID:CVCL_1L36)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:869; ATP7A; Simple; p.Gly727Arg (c.2179G>A); ClinVar=VCV000210418; Zygosity=Hemizygous (PubMed=7977350).
Disease	Menkes disease (NCIt: C75486) Menkes disease (ORDO: Orphanet_565)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Finite cell line
Publications	PubMed=7977350; PMCID=PMC1918324 Das S., Levinson B., Whitney S., Vulpe C.D., Packman S., Gitschier J. Diverse mutations in patients with Menkes disease often lead to exon skipping. Am. J. Hum. Genet. 55:883-889(1994)
Cell line collections (Providers)	Coriell; GM13670
Cell line databases/resources	CLO; CLO_0032693
Encyclopedic resources	Wikidata; Q54846705
Entry history
Entry creation	08-Jul-2015
Last entry update	19-Dec-2024
Version number	12