ID   LUMCi005-B
AC   CVCL_UK79
SY   LUMC0074iHCHWAD03; Lu074i#3
DR   hPSCreg; LUMCi005-B
DR   Wikidata; Q95983440
RX   PubMed=30611017;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:620; APP; Simple; p.Glu693Gln (c.2077G>C); ClinVar=VCV000018087; Zygosity=Heterozygous (PubMed=30611017).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C157147; Cerebral amyloid angiopathy, APP-related
DI   ORDO; Orphanet_85458; Hereditary cerebral hemorrhage with amyloidosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UK78 ! LUMCi005-A
OI   CVCL_UK80 ! LUMCi005-C
SX   Female
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=30611017; DOI=10.1016/j.scr.2018.101359;
RA   Daoutsali, Elena
RA   Buijsen, Ronald A.M.
RA   van de Pas, Simone
RA   't Jong, Anke E.J.
RA   Mikkers, Harald M.M.
RA   Brands, Tom
RA   Eussen, Bert
RA   de Klein, Annelies
RA   van der Graaf, Linda M.
RA   Pepers, Barry A.
RA   Freund, Christian M.A.H.
RA   Terwindt, Gisela M.
RA   Orlova, Valeria V.
RA   van Roon-Mom, Willeke M.C.
RT   "Generation of 3 human induced pluripotent stem cell lines LUMCi005-A,
RT   B and C from a hereditary cerebral hemorrhage with amyloidosis-Dutch
RT   type patient.";
RL   Stem Cell Res. 34:101359-101359(2019).
//