ID   SHCDNi001-A
AC   CVCL_YT40
SY   SHCDN001
DR   BioSamples; SAMEA6880588
DR   hPSCreg; SHCDNi001-A
DR   SKIP; SKIP005801
DR   Wikidata; Q98132501
RX   PubMed=32416579;
CC   From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 13601; FBXL4; Simple; p.Leu332Thrfs*3 (c.993dupA); Zygosity=Homozygous (PubMed=32416579).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C172095; Mitochondrial DNA depletion syndrome 13
DI   ORDO; Orphanet_369897; Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32416579; DOI=10.1016/j.scr.2020.101832;
RA   Yuan F., Wang C.-M., Xi J.-M., Wang S.-M., Lin L.-L., Wang Y.-L.,
RA   Wang A.-Q., Wang C., Luo X.-N., Xu Q.-M., Yin R.-R., Cheng H.-Y.,
RA   Zhang Y.-F., Sun X.-M., Chen Y.-C.;
RT   "Generation of an induced pluripotent stem cell line SHCDNi001-A from
RT   a one-year-old Chinese girl with mitochondrial DNA depletion syndrome
RT   13.";
RL   Stem Cell Res. 45:101832-101832(2020).
//