ID   USPi003-A
AC   CVCL_C6TF
SY   iPS_LGH_AHDC1_P3
DR   BioSamples; SAMEA111506901
DR   hPSCreg; USPi003-A
DR   Wikidata; Q117704949
CC   From: Laboratory of Human Genetics, Institute of Biosciences; Sao Paulo; Brazil.
CC   Sequence variation: Mutation; HGNC; 25230; AHDC1; Simple; p.Lys494Serfs*22 (c.1481_1482delTT); ClinVar=VCV001320043; Zygosity=Heterozygous (hPSCreg=USPi003-A).
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
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//