ID   ISFi003-A
AC   CVCL_C1G2
SY   D2
DR   BioSamples; SAMEA13882711
DR   hPSCreg; ISFi003-A
DR   Wikidata; Q114311767
RX   PubMed=30858616;
CC   From: Institute for Stem Cell Research, Helmholtz Zentrum Munchen; Neuherberg; Germany.
CC   Sequence variation: Mutation; HGNC; 13681; DCHS1; Simple; p.Thr848Asnfs*30 (c.2543delC); ClinVar=VCV000088998; Zygosity=Homozygous (PubMed=30858616).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C188993; Van Maldergem syndrome 1
DI   ORDO; Orphanet_314679; Cerebrofacioarticular syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=30858616; DOI=10.1038/s41591-019-0371-0;
RA   Klaus J., Kanton S., Kyrousi C., Ayo-Martin A.C., Di Giaimo R.,
RA   Riesenberg S., O'Neill A.C., Camp J.G., Tocco C., Santel M., Rusha E.,
RA   Drukker M., Schroeder M., Gotz M., Robertson S.P., Treutlein B.,
RA   Cappello S.;
RT   "Altered neuronal migratory trajectories in human cerebral organoids
RT   derived from individuals with neuronal heterotopia.";
RL   Nat. Med. 25:561-568(2019).
//