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Cellosaurus H234 C2 GC (CVCL_IK98)

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Cell line name H234 C2 GC
Synonyms L150P-GC-hiPSC
Accession CVCL_IK98
Resource Identification Initiative To cite this cell line use: H234 C2 GC (RRID:CVCL_IK98)
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_corrected; p.Leu150Pro (c.449T>C); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=27789395).
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 Parent: CVCL_DQ59 (H234 C2)
Sex of cell Male
Age at sampling 58Y
Category Induced pluripotent stem cell
Publications

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
Encyclopedic resources Wikidata; Q54900977
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12