Cellosaurus cell line BCHNEUi005-A (CVCL

Cellosaurus BCHNEUi005-A (CVCL_XJ19)

Cross-references
Cell line name	BCHNEUi005-A
Synonyms	HNDS_0058-01
Accession	CVCL_XJ19
Resource Identification Initiative	To cite this cell line use: BCHNEUi005-A (RRID:CVCL_XJ19)
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:572; AP4B1; Simple; p.Arg406Ter (c.1216C>T); ClinVar=VCV000422147; Zygosity=Heterozygous (PubMed=31525725). Mutation; HGNC; HGNC:572; AP4B1; Simple; p.Leu443Pro (c.1328T>C); ClinVar=VCV000389026; 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	Female
Age at sampling	3Y9M
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; BCHNEUi005-A
Encyclopedic resources	Wikidata; Q93424046
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	11