ID   BCHNEUi009-A
AC   CVCL_A8KZ
SY   DEF_1779-01; HNC_1779_01
DR   hPSCreg; BCHNEUi009-A
DR   Wikidata; Q108819916
RX   PubMed=34087981;
CC   From: Department of Neurology, Children's Hospital Boston; Boston; USA.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 574; AP4M1; Simple; c.1025+2dupT; Zygosity=Heterozygous (PubMed=34087981).
CC   Sequence variation: Mutation; HGNC; 574; AP4M1; Simple; p.Thr69Pro (c.205A>C); 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   6Y
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).
//