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Cellosaurus BCHNEUi002-A (CVCL_XJ16)

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Cell line name BCHNEUi002-A
Synonyms HNDS_0052-03
Accession CVCL_XJ16
Resource Identification Initiative To cite this cell line use: BCHNEUi002-A (RRID:CVCL_XJ16)
Comments From: Department of Neurology, Children's Hospital Boston; Boston; USA.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:572; AP4B1; Simple; p.Thr387Argfs*30 (c.1160_1161delCA); ClinVar=VCV000156414; Zygosity=Heterozygous (PubMed=31525725).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 38Y
Category Induced pluripotent stem cell
Publications

PubMed=31525725; DOI=10.1016/j.scr.2019.101575; PMCID=PMC7269118
Julian Teinert, Robert Behne, Angelica D'Amore, Miriam Wimmer, Sean A. Dwyer, Teresa Chen, Elizabeth D. Buttermore, Ivy Pin-Fang Chen, Mustafa Sahin, Darius Ebrahimi-Fakhari;
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47).
Stem Cell Res. 40:101575-101575(2019)

Cross-references
Cell line databases/resources hPSCreg; BCHNEUi002-A
Encyclopedic resources Wikidata; Q93424036
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9