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Cellosaurus LUMCi005-A-4 (CVCL_C9HM)

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Cell line name LUMCi005-A-4
Synonyms Iso3LUMC0074iHCHWAD01
Accession CVCL_C9HM
Resource Identification Initiative To cite this cell line use: LUMCi005-A-4 (RRID:CVCL_C9HM)
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_corrected; p.Glu693Gln (c.2077G>C); ClinVar=VCV000018087; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37603921).
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 Parent: CVCL_UK78 (LUMCi005-A)
Sex of cell Female
Age at sampling 56Y
Category Induced pluripotent stem cell
Publications

PubMed=37603921; DOI=10.1016/j.scr.2023.103180
Dennis M. Nahon, Sravya Ganesh, Francijna E. van den Hil, Christian M.A.H. Freund, Christine L. Mummery, Valeria V. Orlova;
Genetic repair of a human induced pluripotent cell line from patient with Dutch-type cerebral amyloid angiopathy.
Stem Cell Res. 71:103180-103180(2023)

Cross-references
Cell line databases/resources hPSCreg; LUMCi005-A-4
Encyclopedic resources Wikidata; Q123032981
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3