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Cellosaurus LUMCi005-A (CVCL_UK78)

[Text version]
Cell line name LUMCi005-A
Synonyms LUMC0074iHCHWAD01; Lu074i#1
Accession CVCL_UK78
Resource Identification Initiative To cite this cell line use: LUMCi005-A (RRID:CVCL_UK78)
Comments From: Leiden University Medical Center; Leiden; Netherlands.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 620; APP; Simple; p.Glu693Gln (c.2077G>C); ClinVar=VCV000018087; Zygosity=Heterozygous (PubMed=30611017).
Disease Cerebral amyloid angiopathy, APP-related (NCIt: C157147)
Hereditary cerebral hemorrhage with amyloidosis (ORDO: Orphanet_85458)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C9HL (LUMCi005-A-3)CVCL_C9HM (LUMCi005-A-4)
Originate from same individual CVCL_UK79 ! LUMCi005-B
CVCL_UK80 ! LUMCi005-C
Sex of cell Female
Age at sampling 56Y
Category Induced pluripotent stem cell
Publications

PubMed=30611017; DOI=10.1016/j.scr.2018.101359
Daoutsali E., Buijsen R.A.M., van de Pas S., 't Jong A.E.J., Mikkers H.M.M., Brands T., Eussen B., de Klein A., van der Graaf L.M., Pepers B.A., Freund C.M.A.H., Terwindt G.M., Orlova V.V., van Roon-Mom W.M.C.
Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a hereditary cerebral hemorrhage with amyloidosis-Dutch type patient.
Stem Cell Res. 34:101359-101359(2019)

Cross-references
Cell line databases/resources hPSCreg; LUMCi005-A
Encyclopedic resources Wikidata; Q95983438
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number8