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Cellosaurus H234 C2 (CVCL_DQ59)

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Cell line name H234 C2
Synonyms H234 clone 2; L150P-hiPSC
Accession CVCL_DQ59
Resource Identification Initiative To cite this cell line use: H234 C2 (RRID:CVCL_DQ59)
Comments From: Bioneer A/S; Horsholm; Denmark.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Leu150Pro (c.449T>C); Zygosity=Heterozygous (PubMed=27345792).
Disease Alzheimer's disease 3 (NCIt: C123412)
Early-onset autosomal dominant Alzheimer disease (ORDO: Orphanet_1020)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_IK98 (H234 C2 GC)
Sex of cell Male
Age at sampling 58Y
Category Induced pluripotent stem cell
Publications

PubMed=27345792; DOI=10.1016/j.scr.2015.12.015
Alisa Tubsuwan, Carlota Pires, Mikkel Aabech Rasmussen, Benjamin Schmid, Jorgen E. Nielsen, Lena Elisabeth Hjermind, Vanessa Jane Hall, Troels T. Nielsen, Gunhild Waldemar, Poul Hyttel, Christian Clausen ...Show all 14 authors... , Narisorn Kitiyanant, Kristine Karla Freude, Bjorn Holst; Show fewer authors
Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1.
Stem Cell Res. 16:110-112(2016)

PubMed=27789395; DOI=10.1016/j.scr.2016.09.018
Anna Poon, Benjamin Schmid, Carlota Pires, Troels T. Nielsen, Lena Elisabeth Hjermind, Jorgen E. Nielsen, Bjorn Holst, Poul Hyttel, Kristine Karla Freude;
Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1.
Stem Cell Res. 17:466-469(2016)

Cross-references
Cell line databases/resources SKIP; SKIP001287
Encyclopedic resources Wikidata; Q54872020
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13