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Cellosaurus HG1435 (CVCL_WX81)

[Text version]
Cell line name HG1435
Accession CVCL_WX81
Resource Identification Initiative To cite this cell line use: HG1435 (RRID:CVCL_WX81)
Comments Population: Caucasian.
Donor information: From Bloom Syndrome Registry patient 54(AlTu) (BSR54).
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.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Heterozygous (PubMed=17407155).
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gly891Glu (c.2672G>A); ClinVar=VCV000524780; Zygosity=Heterozygous (PubMed=17407155).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_WY09 ! HG2709
Sex of cell Male
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)

Cross-references
Encyclopedic resources Wikidata; Q94192509
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number11