Cellosaurus cell line BCHNEUi011-A (CVCL

Cross-references
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 site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:574; AP4M1; Simple; p.Asn73Lysfs*43 (c.218dupA); ClinVar=VCV000450739; Zygosity=Heterozygous (PubMed=34087981). Mutation; HGNC; 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; 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)
Cell line databases/resources	hPSCreg; BCHNEUi011-A
Encyclopedic resources	Wikidata; Q108819918
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6