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Cellosaurus BCHNEUi011-A (CVCL_A8LB)

[Text version]

Cell line name BCHNEUi011-A
Synonyms DEF_1586-01; HNC_1586_01
Accession CVCL_A8LB
Resource Identification Initiative To cite this cell line use: BCHNEUi011-A (RRID:CVCL_A8LB)
Comments From: Department of Neurology, Children's Hospital Boston; Boston; USA.
Population: Caucasian.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 574; AP4M1; Simple; p.Asn73Lysfs*43 (c.218dupA); ClinVar=VCV000450739; Zygosity=Heterozygous (PubMed=34087981).
  • Mutation; HGNC; 574; AP4M1; Simple; p.Tyr284Ser (c.851A>C); ClinVar=VCV000471069; 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 9Y
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; BCHNEUi011-A
Encyclopedic resources Wikidata; Q108819918
Entry history
Entry creation23-Sep-2021
Last entry update17-Mar-2022
Version number3