ID   SHCDNi004-A
AC   CVCL_A1WV
SY   SHCDN004
DR   hPSCreg; SHCDNi004-A
DR   Wikidata; Q105511067
RX   PubMed=33774333;
CC   From: Shanghai Children's Hospital, Shanghai Jiao Tong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 5996; IL1RAPL1; Simple; p.Leu349Serfs*7 (c.1043_1044dup); Zygosity=Hemizygous; Note=De novo mutation (PubMed=33774333).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C179707; Mental retardation, X-linked 21/34
DI   ORDO; Orphanet_777; X-linked non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33774333; DOI=10.1016/j.scr.2021.102292;
RA   Yuan F., Wang S.-M., Wang Y.-L., Wang A.-Q., Wang C., Luo X.-N.,
RA   Xu Q.-M., Yin R.-R., Cheng H.-Y., Wang C.-M., Guo M., Zhang Y.-F.,
RA   Xi J.-M., Yang J., Sun X.-M., Yan J.-B., Zeng F.-Y., Chen Y.-C.;
RT   "Generation and characterization of the induced pluripotent stem cell
RT   line SHCDNi004-A from a ten-year-old Chinese boy with X-linked mental
RT   retardation in IL1RAPL1 deficiency.";
RL   Stem Cell Res. 53:102292-102292(2021).
//