ID   FDCHi010-A
AC   CVCL_D0EV
SY   iPSCx-y-AHDC1-m
DR   BioSamples; SAMEA112938947
DR   hPSCreg; FDCHi010-A
DR   Wikidata; Q123031269
RX   PubMed=37216737;
CC   From: Children's Hospital of Fudan University; Shanghai; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 25230; AHDC1; Simple; p.Arg688Ter (c.2062C>T); ClinVar=VCV000438276; Zygosity=Heterozygous (PubMed=37216737).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C192092; Xia-Gibbs syndrome
DI   ORDO; Orphanet_412069; AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y2M
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37216737; DOI=10.1016/j.scr.2023.103118;
RA   Yin T.-T., Wu B.-B., Peng T., Liao Y.-F., Jiao S.-Y., Wang H.-J.;
RT   "Generation of a human induced pluripotent stem cell line (FDCHi010-A)
RT   from a patient with Xia-Gibbs syndrome carrying AHDC1 mutation
RT   (c.2062C>T).";
RL   Stem Cell Res. 69:103118-103118(2023).
//