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Cellosaurus BCHNEUi005-A (CVCL_XJ19)

[Text version]
Cell line name BCHNEUi005-A
Synonyms HNDS_0058-01
Accession CVCL_XJ19
Resource Identification Initiative To cite this cell line use: BCHNEUi005-A (RRID:CVCL_XJ19)
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; 572; AP4B1; Simple; p.Arg406Ter (c.1216C>T); ClinVar=VCV000422147; Zygosity=Heterozygous (PubMed=31525725).
  • Mutation; HGNC; 572; AP4B1; Simple; p.Leu443Pro (c.1328T>C); ClinVar=VCV000389026; 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 Female
Age at sampling 3Y9M
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; BCHNEUi005-A
Encyclopedic resources Wikidata; Q93424046
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number10