ID   JTUi001-A
AC   CVCL_YP16
DR   BioSamples; SAMEA6602307
DR   hPSCreg; JTUi001-A
DR   SKIP; SKIP005786
DR   Wikidata; Q94332505
RX   PubMed=32247258;
CC   From: Sixth People's Hospital, Shanghai Jiao Tong University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 20626; CHD7; Simple; p.Leu1151Glyfs*17 (c.3449_3450delTC); Zygosity=Heterozygous; Note=De novo mutation (PubMed=32247258).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75100; CHARGE syndrome
DI   ORDO; Orphanet_138; CHARGE syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1-2Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32247258; DOI=10.1016/j.scr.2020.101774;
RA   He S.-H., Hu J.-T., Zheng Z., Wang J.-J., Chen J.-L., Zhang C., Li L.,
RA   Wang J.-P., Chen Z.-N., Shi H.-B., Wang J.-F.;
RT   "Establishment of an induced pluripotent stem cell line from a patient
RT   with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation.";
RL   Stem Cell Res. 45:101774-101774(2020).
//