Cellosaurus cell line BCHNEUi001-A (CVCL

Cross-references
Cell line name	BCHNEUi001-A
Synonyms	HNDS_0052-01
Accession	CVCL_XJ15
Resource Identification Initiative	To cite this cell line use: BCHNEUi001-A (RRID:CVCL_XJ15)
Comments	From: Department of Neurology, Children's Hospital Boston; Boston; USA. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:572; AP4B1; Simple; p.Thr387Argfs*30 (c.1160_1161delCA); ClinVar=VCV000156414; Zygosity=Heterozygous (PubMed=31525725). Mutation; HGNC; HGNC:572; AP4B1; Simple; p.Arg449Ter (c.1345A>T); ClinVar=VCV000521444; Zygosity=Heterozygous (PubMed=31525725).
Disease	Spastic paraplegia 47 (NCIt: C164224) Severe intellectual disability and progressive spastic paraplegia (ORDO: Orphanet_280763)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=31525725; DOI=10.1016/j.scr.2019.101575; PMCID=PMC7269118 Teinert J., Behne R., D'Amore A., Wimmer M., Dwyer S.A., Chen T., Buttermore E.D., Chen I.P.-F., Sahin M., Ebrahimi-Fakhari D. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). Stem Cell Res. 40:101575-101575(2019)
Cell line databases/resources	hPSCreg; BCHNEUi001-A
Encyclopedic resources	Wikidata; Q93424032
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10