ID   BCHNEUi012-A
AC   CVCL_A8LC
SY   DEF_1586-03; HNC_1586_03
DR   hPSCreg; BCHNEUi012-A
DR   Wikidata; Q108819919
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.Asn73Lysfs*43 (c.218dupA); ClinVar=VCV000450739; Zygosity=Heterozygous (PubMed=34087981).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
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).
//