ID   BCHNEUi010-A
AC   CVCL_A8LA
SY   DEF_1779-03; HNC_1779_03
DR   hPSCreg; BCHNEUi010-A
DR   Wikidata; Q108819917
RX   PubMed=34087981;
CC   From: Department of Neurology, Children's Hospital Boston; Boston; USA.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; HGNC:574; AP4M1; Simple; c.1025+2dupT; ClinVar=rs750223135; Zygosity=Heterozygous; Note=Splice donor mutation (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   28Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=34087981; DOI=10.1016/j.scr.2021.102335; PMCID=PMC8824776;
RA   Eberhardt, Kathrin
RA   Jumo, Hellen
RA   D'Amore, Angelica
RA   Alecu, Julian E.
RA   Ziegler, Marvin
RA   Afshar-Saber, Wardiya
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 AP4M1-associated
RT   hereditary spastic paraplegia (SPG50).";
RL   Stem Cell Res. 53:102335-102335(2021).
//