ID   USPi001-A
AC   CVCL_C6TD
SY   iPS_LGH_AHDC1_P1
DR   BioSamples; SAMEA111496317
DR   hPSCreg; USPi001-A
DR   Wikidata; Q117704947
CC   From: Laboratory of Human Genetics, Institute of Biosciences; Sao Paulo; Brazil.
CC   Sequence variation: Mutation; HGNC; 25230; AHDC1; Simple; p.Gln332Ter (c.994C>T); ClinVar=VCV000800800; Zygosity=Heterozygous (hPSCreg=USPi001-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
//