ID   UKMi002-B
AC   CVCL_ZL85
SY   CLCF1-iPSC-C4
DR   Wikidata; Q98133988
RX   PubMed=32512309;
CC   From: Muenster University Children's Hospital; Muenster; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 17412; CLCF1; Simple; p.Tyr107Ter (c.321C>G); ClinVar=VCV000002930; Zygosity=Homozygous (PubMed=32512309).
CC   Derived from site: In situ; Nose; UBERON=UBERON_0000004.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C173148; Crisponi/cold-induced sweating syndrome-2
DI   ORDO; Orphanet_1545; Crisponi syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZL84 ! UKMi002-A
OI   CVCL_ZL86 ! UKMi002-C
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32512309; DOI=10.1016/j.scr.2020.101855;
RA   Buers I., Schoning L., Loges N.T., Nitschke Y., Hoben I.M.,
RA   Ropke A., Crisponi L., Omran H., Rutsch F.;
RT   "Crisponi syndrome/cold-induced sweating syndrome type 2:
RT   Reprogramming of CS/CISS2 individual derived fibroblasts into three
RT   clones of one iPSC line.";
RL   Stem Cell Res. 46:101855-101855(2020).
//