Cellosaurus cell line GM16890 (CVCL

Cross-references
Cell line name	GM16890
Synonyms	HG1992
Accession	CVCL_U714
Resource Identification Initiative	To cite this cell line use: GM16890 (RRID:CVCL_U714)
Comments	Population: Caucasian. Omics: miRNA expression profiling. Donor information: From Bloom Syndrome Registry patient 133 (BSR133). Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gln645Ter (c.1933C>T); ClinVar=VCV000454091; Zygosity=Homozygous (PubMed=17407155; Coriell=GM16890).
Disease	Bloom syndrome (NCIt: C2903) Bloom syndrome (ORDO: Orphanet_125)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	13Y
Category	Finite cell line
Publications	PubMed=17407155; DOI=10.1002/humu.20501 German J.L. 3rd, Sanz M.M., Ciocci S., Ye T.-Z., Ellis N.A. Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Hum. Mutat. 28:743-753(2007)
Cell line collections (Providers)	Coriell; GM16890
Cell line databases/resources	CLO; CLO_0018106
Encyclopedic resources	Wikidata; Q54848803
Gene expression databases	GEO; GSM1317031
Entry history
Entry creation	16-Apr-2014
Last entry update	19-Dec-2024
Version number	16