Cellosaurus logo
expasy logo

Cellosaurus BCHNEUi004-A (CVCL_XJ18)

[Text version]
Cell line name BCHNEUi004-A
Synonyms HNDS_0054-02
Accession CVCL_XJ18
Resource Identification Initiative To cite this cell line use: BCHNEUi004-A (RRID:CVCL_XJ18)
Comments From: Department of Neurology, Children's Hospital Boston; Boston; USA.
Population: Caucasian.
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; c.114-2A>C; ClinVar=VCV000252667; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=31525725).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

PubMed=31525725; DOI=10.1016/j.scr.2019.101575; PMCID=PMC7269118
Teinert J., Behne R., D'Amore A., Wimmer M., Dwyer S.A., Chen T., Buttermore E.D., Chen I.P.-F., Sahin M., Ebrahimi-Fakhari D.
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; BCHNEUi004-A
Encyclopedic resources Wikidata; Q93424043
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number11