ID   T1 1Cr NKX2.1 Pt 1
AC   CVCL_D3C4
SY   T1; T1-1Cr4
DR   Wikidata; Q127384360
RX   PubMed=26593959;
WW   https://stemcellbank.bu.edu/Catalog/Item/Details/590
CC   From: Boston University School of Medicine; Boston; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:11825; NKX2-1; Simple; p.Pro129Glyfs (c.384_391delGCCGTACC); Zygosity=Unspecified (PubMed=26593959).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C202546; Choreoathetosis, hypothyroidism, and neonatal respiratory distress
DI   ORDO; Orphanet_209905; Brain-lung-thyroid syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=26593959; DOI=10.1016/j.stem.2015.09.004; PMCID=PMC4666682;
RA   Kurmann A.A., Serra M., Hawkins F., Rankin S.A., Mori M., Astapova I.,
RA   Ullas S., Lin S., Bilodeau M., Rossant J., Jean J.-C., Ikonomou L.,
RA   Deterding R.R., Shannon J.M., Zorn A.M., Hollenberg A.N.,
RA   Kotton D.N.;
RT   "Regeneration of thyroid function by transplantation of differentiated
RT   pluripotent stem cells.";
RL   Cell Stem Cell 17:527-542(2015).
//