ID   FDCHi009-A
AC   CVCL_C6TS
SY   iPSCx-y-CHD7-m
DR   hPSCreg; FDCHi009-A
DR   Wikidata; Q117704333
RX   PubMed=36502621;
CC   From: Children's Hospital of Fudan University; Shanghai; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:20626; CHD7; Simple; p.Leu980Pro (c.2939T>C); Zygosity=Heterozygous (PubMed=36502621).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75100; CHARGE syndrome
DI   ORDO; Orphanet_138; CHARGE syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4M
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 3
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RX   PubMed=36502621; DOI=10.1016/j.scr.2022.102996;
RA   Peng T., Cheng Y., Xiong M., Cheng G.-Q.;
RT   "Generation of a human iPSC line (FDCHi009-A) from a patient with
RT   CHARGE syndrome carrying a novel CHD7 mutation (c.2939 T > C).";
RL   Stem Cell Res. 66:102996-102996(2023).
//