ID   SHCDNi003-A
AC   CVCL_ZL96
SY   SHCDN003
DR   BioSamples; SAMEA7044788
DR   hPSCreg; SHCDNi003-A
DR   Wikidata; Q98132503
RX   PubMed=32603881;
CC   From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 10923; SLC16A2; Simple; c.1026+1G>A; Zygosity=Hemizygous; Note=Splice donor mutation (PubMed=32603881).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118843; Allan-Herndon-Dudley syndrome
DI   ORDO; Orphanet_59; Allan-Herndon-Dudley syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32603881; DOI=10.1016/j.scr.2020.101872;
RA   Wang A.-Q., Xi J.-M., Yuan F., Wang Y.-L., Wang S.-M., Wang C.-M.,
RA   Wang C., Lin L.-L., Luo X.-N., Xu Q.-M., Yin R.-R., Cheng H.-Y.,
RA   Zhang Y.-F., Sun X.-M., Yang J., Yan J.-B., Zeng F.-Y., Chen Y.-C.;
RT   "Generation of an induced pluripotent stem cell line (SHCDNi003-A)
RT   from a one-year-old Chinese Han infant with Allan-Herndon-Dudley
RT   syndrome.";
RL   Stem Cell Res. 46:101872-101872(2020).
//