Cellosaurus cell line GM12932 (CVCL

Cross-references
Cell line name	GM12932
Synonyms	GM 12932
Accession	CVCL_1K69
Resource Identification Initiative	To cite this cell line use: GM12932 (RRID:CVCL_1K69)
Comments	Population: African American. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4065; GAA; Simple; p.Trp481Arg (c.1441T>C); ClinVar=VCV000189007; Zygosity=Heterozygous (PubMed=10189220). Mutation; HGNC; HGNC:4065; GAA; Simple; c.1326+1G>A (IVS8+1G>A); ClinVar=VCV000597944; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=10189220).
Disease	Glycogen storage disease type II (NCIt: C84734) Glycogen storage disease due to acid maltase deficiency (ORDO: Orphanet_365)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	9M
Category	Finite cell line
Publications	PubMed=10189220; DOI=10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU13>3.0.CO;2-2 Raben N., Lee E., Lee L., Hirschhorn R., Plotz P.H. Novel mutations in African American patients with glycogen storage disease type II. Hum. Mutat. 13:83-84(1999)
Cell line collections (Providers)	Coriell; GM12932
Cell line databases/resources	CLO; CLO_0022920
Encyclopedic resources	Wikidata; Q54846239
Entry history
Entry creation	08-Jul-2015
Last entry update	19-Dec-2024
Version number	15