Cellosaurus cell line LUMCi005-A (CVCL

Cellosaurus LUMCi005-A (CVCL_UK78)

[Text version]

Cell line name

LUMCi005-A

Synonyms

LUMC0074iHCHWAD01; Lu074i#1

Accession

CVCL_UK78

Resource Identification Initiative

To cite this cell line use: LUMCi005-A (RRID:CVCL_UK78)

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)

Hierarchy

Children:

CVCL_C9HL (LUMCi005-A-3)

CVCL_C9HM (LUMCi005-A-4)

Originate from same individual

CVCL_UK79 ! LUMCi005-B
CVCL_UK80 ! LUMCi005-C

Sex of cell

Female

Age at sampling

56Y

Category

Induced pluripotent stem cell

Publications

PubMed=30611017; DOI=10.1016/j.scr.2018.101359
Elena Daoutsali, Ronald A.M. Buijsen, Simone van de Pas, Anke E.J. 't Jong, Harald M.M. Mikkers, Tom Brands, Bert Eussen, Annelies de Klein, Linda M. van der Graaf, Barry A. Pepers, Christian M.A.H. Freund ...Show all 14 authors... , Gisela M. Terwindt, Valeria V. Orlova, Willeke M.C. van Roon-Mom; Show fewer authors
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)

Cross-references

Cell line databases/resources

hPSCreg; LUMCi005-A

Encyclopedic resources

Wikidata; Q95983438

Entry history

Entry creation

25-Feb-2019

Last entry update

19-Dec-2024

Version number