ID   BCHNEUi007-A
AC   CVCL_A8KX
SY   DEF_1726-01; HNC_1726_01
DR   hPSCreg; BCHNEUi007-A
DR   Wikidata; Q108819914
RX   PubMed=34087981;
CC   From: Department of Neurology, Children's Hospital Boston; Boston; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 574; AP4M1; Simple; p.Glu232Glyfs*21 (c.694dupG); ClinVar=VCV000818030; Zygosity=Heterozygous (PubMed=34087981).
CC   Sequence variation: Mutation; HGNC; 574; AP4M1; Simple; p.Arg306Ter (c.916C>T); ClinVar=VCV000561150; Zygosity=Heterozygous (PubMed=34087981).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C179863; Spastic paraplegia 50
DI   ORDO; Orphanet_210141; Inherited congenital spastic tetraplegia
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   1Y6M
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 17-03-22; Version: 3
//
RX   PubMed=34087981; DOI=10.1016/j.scr.2021.102335;
RA   Eberhardt K., Jumo H., D'Amore A., Alecu J.E., Ziegler M.,
RA   Afshar Saber W., Sahin M., Ebrahimi-Fakhari D.;
RT   "Generation and characterization of six human induced pluripotent stem
RT   cell lines (iPSC) from three families with AP4M1-associated
RT   hereditary spastic paraplegia (SPG50).";
RL   Stem Cell Res. 53:102335-102335(2021).
//