ID   LUMCi005-A-3
AC   CVCL_C9HL
SY   Iso1LUMC0074iHCHWAD01
DR   hPSCreg; LUMCi005-A-3
DR   Wikidata; Q123032980
RX   PubMed=37603921;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 620; APP; Simple_corrected; p.Glu693Gln (c.2077G>C); ClinVar=VCV000018087; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37603921).
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)
HI   CVCL_UK78 ! LUMCi005-A
SX   Female
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37603921; DOI=10.1016/j.scr.2023.103180;
RA   Nahon D.M., Ganesh S., van den Hil F.E., Freund C.M.A.H., Mummery C.L.,
RA   Orlova V.V.;
RT   "Genetic repair of a human induced pluripotent cell line from patient
RT   with Dutch-type cerebral amyloid angiopathy.";
RL   Stem Cell Res. 71:103180-103180(2023).
//