ID   BCHNEUi003-A
AC   CVCL_XJ17
SY   HNDS_0054-01
DR   hPSCreg; BCHNEUi003-A
DR   Wikidata; Q93424040
RX   PubMed=31525725;
CC   From: Department of Neurology, Children's Hospital Boston; Boston; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:572; AP4B1; Simple; c.114-2A>C; ClinVar=VCV000252667; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=31525725).
CC   Sequence variation: Mutation; HGNC; HGNC:572; AP4B1; Simple; p.Asn178Glufs*20 (c.530_531insA); ClinVar=VCV000252668; Zygosity=Heterozygous (PubMed=31525725).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C164224; Spastic paraplegia 47
DI   ORDO; Orphanet_280763; Severe intellectual disability and progressive spastic paraplegia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 11
//
RX   PubMed=31525725; DOI=10.1016/j.scr.2019.101575; PMCID=PMC7269118;
RA   Teinert, Julian
RA   Behne, Robert
RA   D'Amore, Angelica
RA   Wimmer, Miriam
RA   Dwyer, Sean A.
RA   Chen, Teresa
RA   Buttermore, Elizabeth D.
RA   Chen, Ivy Pin-Fang
RA   Sahin, Mustafa
RA   Ebrahimi-Fakhari, Darius
RT   "Generation and characterization of six human induced pluripotent stem
RT   cell lines (iPSC) from three families with AP4B1-associated
RT   hereditary spastic paraplegia (SPG47).";
RL   Stem Cell Res. 40:101575-101575(2019).
//