ID   BCH001
AC   CVCL_A8ZD
SY   BCH001-iPSC; iPSC-RET
DR   Wikidata; Q108819913
RX   PubMed=34087988;
CC   From: Beijing Children's Hospital; Beijing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:9967; RET; Simple; c.2608-125C>T; Zygosity=Heterozygous (PubMed=34087988).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=34087988
ST   Amelogenin: X,Y
ST   CSF1PO: 11,13
ST   D12S391: 18,20
ST   D13S317: 9,12
ST   D16S539: 11,12
ST   D18S51: 13,17
ST   D19S433: 14,15.2
ST   D21S11: 30,32.2
ST   D2S1338: 18,23
ST   D2S441: 11.3,12
ST   D3S1358: 15,18
ST   D5S818: 12
ST   D6S1043: 13,19
ST   D7S820: 11,12
ST   D8S1179: 10,15
ST   FGA: 23
ST   Penta D: 9
ST   Penta E: 12,23
ST   TH01: 7,9
ST   TPOX: 8
ST   vWA: 16,18
DI   NCIt; C98889; Congenital central hypoventilation
DI   ORDO; Orphanet_661; Ondine syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y2M
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=34087988; DOI=10.1016/j.scr.2021.102359;
RA   Xu Z.-F., Ma D.-D., Wu Y., Wang L., Zhang Y.-J., Ni X.;
RT   "Generation and characterization of iPSC lines (BCH001) from a boy
RT   with intron 14 mutation in the ret proto-oncogene (RET) gene.";
RL   Stem Cell Res. 53:102359-102359(2021).
//