Cellosaurus cell line GM16886 (CVCL

Cellosaurus GM16886 (CVCL_U713)

Cross-references
Cell line name	GM16886
Synonyms	HG1304
Accession	CVCL_U713
Resource Identification Initiative	To cite this cell line use: GM16886 (RRID:CVCL_U713)
Comments	Population: Caucasian. Omics: Transcriptomics; Microarray. Omics: Transcriptomics; miRNA profiling; Microarray. Donor information: From Bloom Syndrome Registry patient 59(FrFi) (BSR59). 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.Gln700Ter (c.2098C>T); ClinVar=VCV000042067; Zygosity=Heterozygous (PubMed=17407155; Coriell=GM16886).
Disease	Bloom syndrome (NCIt: C2903) Bloom syndrome (ORDO: Orphanet_125)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_WX85 ! HG1321
Sex of cell	Male
Age at sampling	7Y
Category	Finite cell line
Publications	PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x German J.L. 3rd, Bloom D., Passarge E. Bloom's syndrome. V. Surveillance for cancer in affected families. Clin. Genet. 12:162-168(1977) 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; GM16886
Cell line databases/resources	CLO; CLO_0018138
Encyclopedic resources	Wikidata; Q54848802
Gene expression databases	GEO; GSM1316992 GEO; GSM1317030
Entry history
Entry creation	16-Apr-2014
Last entry update	10-Apr-2025
Version number	17