Home  |  Contact

Cellosaurus BCHNEUi001-A (CVCL_XJ15)

[Text version]
Cell line name BCHNEUi001-A
Synonyms HNDS_0052-01
Accession CVCL_XJ15
Resource Identification Initiative To cite this cell line use: BCHNEUi001-A (RRID:CVCL_XJ15)
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; 572; AP4B1; Simple; p.Thr387Argfs*30 (c.1160_1161delCA); ClinVar=VCV000156414; Zygosity=Heterozygous (PubMed=31525725).
  • Mutation; HGNC; 572; AP4B1; Simple; p.Arg449Ter (c.1345A>T); ClinVar=VCV000521444; Zygosity=Heterozygous (PubMed=31525725).
Disease Spastic paraplegia 47 (NCIt: C164224)
Severe intellectual disability and progressive spastic paraplegia (ORDO: Orphanet_280763)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=31525725; DOI=10.1016/j.scr.2019.101575
Teinert J., Behne R., D'Amore A., Wimmer M., Dwyer S., 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; BCHNEUi001-A
Encyclopedic resources Wikidata; Q93424032
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number9