ID   LIBDi011-A
AC   CVCL_A4WM
SY   PTHS1022.05
DR   hPSCreg; LIBDi011-A
DR   Wikidata; Q107115647
RX   PubMed=32971458;
CC   From: Lieber Institute for Brain Development; Baltimore; USA.
CC   Sequence variation: Mutation; HGNC; 11634; TCF4; Simple; p.Arg76Ter; Zygosity=Heterozygous (PubMed=32971458).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C129872; Pitt-Hopkins syndrome
DI   ORDO; Orphanet_2896; Pitt-Hopkins syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=32971458; DOI=10.1016/j.scr.2020.102001; PMCID=PMC7592084;
RA   Sripathy S.R., Wang Y., Moses R.L., Fatemi A., Batista D.A.S.,
RA   Maher B.J.;
RT   "Generation of 10 patient-specific induced pluripotent stem cells
RT   (iPSCs) to model Pitt-Hopkins syndrome.";
RL   Stem Cell Res. 48:102001-102001(2020).
//