ID   ZZUi030-A
AC   CVCL_B0FN
SY   ZZU-iPS-SPG7-001
DR   BioSamples; SAMEA9405883
DR   hPSCreg; ZZUi030-A
DR   Wikidata; Q108821568
RX   PubMed=34509920;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 11237; SPG7; Simple; p.Arg398Ter (c.1192C>T); ClinVar=VCV000545964; Zygosity=Heterozygous (PubMed=34509920).
CC   Derived from site: In situ; Leg, skin, dermis; UBERON=UBERON_0001511+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C181657; Spastic paraplegia 7
DI   ORDO; Orphanet_99013; Spastic paraplegia type 7
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34509920; DOI=10.1016/j.scr.2021.102525;
RA   Zhang Q., Wang Z.-Y., Sun H.-F., Chen N., Xu X.-J., Yang J., Gao Y.,
RA   Wang Y.-L., Xu Y.-M.;
RT   "Generation of induced pluripotent stem cell line (ZZUi030-A) from a
RT   patient with spastic paraplegia type 7.";
RL   Stem Cell Res. 56:102525-102525(2021).
//