Cellosaurus cell line FDCHi010-A (CVCL

Cross-references
Cell line name	FDCHi010-A
Synonyms	iPSCx-y-AHDC1-m
Accession	CVCL_D0EV
Resource Identification Initiative	To cite this cell line use: FDCHi010-A (RRID:CVCL_D0EV)
Comments	From: Children's Hospital of Fudan University; Shanghai; China. Population: Chinese. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:25230; AHDC1; Simple; p.Arg688Ter (c.2062C>T); ClinVar=VCV000438276; Zygosity=Heterozygous (PubMed=37216737).
Disease	Xia-Gibbs syndrome (NCIt: C192092) AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORDO: Orphanet_412069)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3Y2M
Category	Induced pluripotent stem cell
Publications	PubMed=37216737; DOI=10.1016/j.scr.2023.103118 Yin T.-T., Wu B.-B., Peng T., Liao Y.-F., Jiao S.-Y., Wang H.-J. Generation of a human induced pluripotent stem cell line (FDCHi010-A) from a patient with Xia-Gibbs syndrome carrying AHDC1 mutation (c.2062C>T). Stem Cell Res. 69:103118-103118(2023)
Cell line databases/resources	hPSCreg; FDCHi010-A
Biological sample resources	BioSamples; SAMEA112938947
Encyclopedic resources	Wikidata; Q123031269
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3