ID   HSCR-iPSC 1
AC   CVCL_VL53
DR   Wikidata; Q94303056
RX   PubMed=29965875;
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:9967; RET; Simple; p.Glu61Argfs*163 (c.180delT); Zygosity=Heterozygous (PubMed=29965875).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34700; Hirschsprung disease
DI   ORDO; Orphanet_388; Hirschsprung disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VL54 ! HSCR-iPSC 2
OI   CVCL_VL55 ! HSCR-iPSC 3
SX   Sex unspecified
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 9
//
RX   PubMed=29965875; DOI=10.1097/WNR.0000000000001070;
RA   Wang Y., Lai X.-Q., Huang L.-H., Liu G.-J., Zai Z.-C., Zhu D.-L., Zhang Y.,
RA   Liang Z.-Y., Yao Z.-G., Chen Y.-P., Wen Z., Xia H.-M.;
RT   "Establishment of an induced pluripotent stem cell model of
RT   Hirschsrpung disease, a congenital condition of the enteric nervous
RT   system, from a patient carrying a novel RET mutation.";
RL   NeuroReport 29:975-980(2018).
//