Cellosaurus cell line LUMCi005-C (CVCL

Cross-references
Cell line name	LUMCi005-C
Synonyms	LUMC0074iHCHWAD07; Lu074i#7
Accession	CVCL_UK80
Resource Identification Initiative	To cite this cell line use: LUMCi005-C (RRID:CVCL_UK80)
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; 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)
Originate from same individual	CVCL_UK78 ! LUMCi005-A CVCL_UK79 ! LUMCi005-B
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)
Cell line databases/resources	hPSCreg; LUMCi005-C
Encyclopedic resources	Wikidata; Q95983442
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	9