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Cellosaurus BCHNEUi010-A (CVCL_A8LA)

[Text version]
Cell line name BCHNEUi010-A
Synonyms DEF_1779-03; HNC_1779_03
Accession CVCL_A8LA
Resource Identification Initiative To cite this cell line use: BCHNEUi010-A (RRID:CVCL_A8LA)
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; HGNC:574; AP4M1; Simple; c.1025+2dupT; ClinVar=rs750223135; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=34087981).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=34087981; DOI=10.1016/j.scr.2021.102335; PMCID=PMC8824776
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; BCHNEUi010-A
Encyclopedic resources Wikidata; Q108819917
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number7