Cellosaurus cell line GM16891 (CVCL

Cellosaurus GM16891 (CVCL_U715)

Cross-references
Cell line name	GM16891
Synonyms	HG1824
Accession	CVCL_U715
Resource Identification Initiative	To cite this cell line use: GM16891 (RRID:CVCL_U715)
Comments	Population: Caucasian. Omics: miRNA expression profiling. Omics: Transcriptome analysis by microarray. Donor information: From Bloom Syndrome Registry patient 169 (BSR169). 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=GM16891).
Disease	Bloom syndrome (NCIt: C2903) Bloom syndrome (ORDO: Orphanet_125)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	30Y
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) PubMed=19966276; DOI=10.1093/nar/gkp1103; PMCID=PMC2831322 Johnson J.E., Cao K., Ryvkin P., Wang L.-S., Johnson F.B. Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential. Nucleic Acids Res. 38:1114-1122(2010)
Cell line collections (Providers)	Coriell; GM16891
Cell line databases/resources	CLO; CLO_0018105
Encyclopedic resources	Wikidata; Q54848804
Gene expression databases	GEO; GSM476015 GEO; GSM1316993 GEO; GSM1317032
Entry history
Entry creation	16-Apr-2014
Last entry update	19-Dec-2024
Version number	16