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Cellosaurus BCHNEUi009-A (CVCL_A8KZ)

[Text version]
Cell line name BCHNEUi009-A
Synonyms DEF_1779-01; HNC_1779_01
Accession CVCL_A8KZ
Resource Identification Initiative To cite this cell line use: BCHNEUi009-A (RRID:CVCL_A8KZ)
Comments From: Department of Neurology, Children's Hospital Boston; Boston; USA.
Population: African American.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 574; AP4M1; Simple; c.1025+2dupT; ClinVar=rs750223135; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=34087981).
  • Mutation; HGNC; 574; AP4M1; Simple; p.Thr69Pro (c.205A>C); ClinVar=VCV001306889; Zygosity=Heterozygous (PubMed=34087981).
Disease Spastic paraplegia 50 (NCIt: C179863)
Inherited congenital spastic tetraplegia (ORDO: Orphanet_210141)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Induced pluripotent stem cell
Publications

PubMed=34087981; DOI=10.1016/j.scr.2021.102335
Eberhardt K., Jumo H., D'Amore A., Alecu J.E., Ziegler M., Afshar Saber W., Sahin M., Ebrahimi-Fakhari D.
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50).
Stem Cell Res. 53:102335-102335(2021)

Cross-references
Cell line databases/resources hPSCreg; BCHNEUi009-A
Encyclopedic resources Wikidata; Q108819916
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number7