ID   CHARGE2-1
AC   CVCL_LJ33
SY   CH2#1
DR   Wikidata; Q54811732
RX   PubMed=29179815;
CC   From: Keio University School of Medicine; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:20626; CHD7; Simple; p.Arg1494Ter (c.4480C>T); ClinVar=VCV000158296; Zygosity=Heterozygous (PubMed=29179815).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75100; CHARGE syndrome
DI   ORDO; Orphanet_138; CHARGE syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_LJ34 ! CHARGE2-16
OI   CVCL_LJ35 ! CHARGE2-19
SX   Female
AG   >10Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 9
//
RX   PubMed=29179815; DOI=10.7554/eLife.21114; PMCID=PMC5705211;
RA   Okuno H., Renault-Mihara F., Ohta S., Fukuda K., Kurosawa K.,
RA   Akamatsu W., Sanosaka T., Kohyama J., Hayashi K., Nakajima K.,
RA   Takahashi T., Wysocka J.K., Kosaki K., Okano H.;
RT   "CHARGE syndrome modeling using patient-iPSCs reveals defective
RT   migration of neural crest cells harboring CHD7 mutations.";
RL   eLife 6:e21114.1-e21114.26(2017).
//