ID   UKMi001-B
AC   CVCL_YT50
SY   CRLF1-iPSC-C4
DR   hPSCreg; UKMi001-B
DR   Wikidata; Q98133977
RX   PubMed=32492556;
CC   From: Muenster University Children's Hospital; Muenster; Germany.
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; 2364; CRLF1; Simple; p.Pro238Argfs*6 (c.708_709delinsT); ClinVar=VCV000005712; Zygosity=Homozygous (PubMed=32492556).
CC   Derived from site: In situ; Nose; UBERON=UBERON_0000004.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C173147; Crisponi/cold-induced sweating syndrome-1
DI   ORDO; Orphanet_1545; Crisponi syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YT49 ! UKMi001-A
OI   CVCL_YT51 ! UKMi001-C
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32492556; DOI=10.1016/j.scr.2020.101820;
RA   Schoning L., Loges N.T., Nitschke Y., Hoben I.M., Ropke A.,
RA   Crisponi L., Omran H., Rutsch F., Buers I.;
RT   "Generation of induced pluripotent stem cell lines from a
RT   Crisponi/cold induced sweating syndrome type 1 individual.";
RL   Stem Cell Res. 46:101820-101820(2020).
//