ID   LUMCi005-C
AC   CVCL_UK80
SY   LUMC0074iHCHWAD07; Lu074i#7
DR   hPSCreg; LUMCi005-C
DR   Wikidata; Q95983442
RX   PubMed=30611017;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; 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_UK79 ! LUMCi005-B
SX   Female
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=30611017; DOI=10.1016/j.scr.2018.101359;
RA   Daoutsali E., Buijsen R.A.M., van de Pas S., 't Jong A.E.J.,
RA   Mikkers H.M.M., Brands T., Eussen B., de Klein A., van der Graaf L.M.,
RA   Pepers B.A., Freund C.M.A.H., Terwindt G.M., Orlova V.V.,
RA   van Roon-Mom W.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).
//