ID   USPi001-A
AC   CVCL_C6TD
SY   iPS_LGH_AHDC1_P1
DR   BioSamples; SAMEA111496317
DR   hPSCreg; USPi001-A
DR   Wikidata; Q117704947
RX   PubMed=37054903;
CC   From: Laboratory of Human Genetics, Institute of Biosciences; Sao Paulo; Brazil.
CC   Sequence variation: Mutation; HGNC; HGNC:25230; AHDC1; Simple; p.Gln332Ter (c.994C>T); ClinVar=VCV000800800; Zygosity=Heterozygous; Note=De novo mutation (PubMed=37054903).
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   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37054903; DOI=10.1016/j.gene.2023.147424;
RA   Carvalho L.M.L., Varella-Branco E., Sarafian R.D., Kobayashi G.S.,
RA   Tofoli de Araujo F., Souza L.S., Moreira D.P., Hsia G.S.-P.,
RA   Goloni-Bertollo E.M., Buck C.O.B., da Costa S.S., Fialho D.M.C.,
RA   de Vasconcelos F.T.G.R., Brito L.A., de Souza Fraga Machado L.E.,
RA   Ramos I.C., Pereira L.V., Koiffmann C.P., Passos-Bueno M.R.,
RA   de Oliveira Mendes T.A., Krepischi A.C.V., Rosenberg C.;
RT   "Establishment of iPSC lines and zebrafish with loss-of-function AHDC1
RT   variants: models for Xia-Gibbs syndrome.";
RL   Gene 871:147424.1-147424.10(2023).
//