Cellosaurus cell line BCHNEUi007-A (CVCL

Cellosaurus BCHNEUi007-A (CVCL_A8KX)

Cross-references
Cell line name	BCHNEUi007-A
Synonyms	DEF_1726-01; HNC_1726_01
Accession	CVCL_A8KX
Resource Identification Initiative	To cite this cell line use: BCHNEUi007-A (RRID:CVCL_A8KX)
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.Glu232Glyfs*21 (c.694dupG); ClinVar=VCV000818030; Zygosity=Heterozygous (PubMed=34087981). Mutation; HGNC; HGNC:574; AP4M1; Simple; p.Arg306Ter (c.916C>T); ClinVar=VCV000561150; 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	1Y6M
Category	Induced pluripotent stem cell
Publications	PubMed=34087981; DOI=10.1016/j.scr.2021.102335; PMCID=PMC8824776 Kathrin Eberhardt, Hellen Jumo, Angelica D'Amore, Julian E. Alecu, Marvin Ziegler, Wardiya Afshar-Saber, Mustafa Sahin, Darius Ebrahimi-Fakhari; 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; BCHNEUi007-A
Encyclopedic resources	Wikidata; Q108819914
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6