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Cellosaurus BCH001 (CVCL_A8ZD)

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Cell line name BCH001
Synonyms BCH001-iPSC; iPSC-RET
Accession CVCL_A8ZD
Resource Identification Initiative To cite this cell line use: BCH001 (RRID:CVCL_A8ZD)
Comments From: Beijing Children's Hospital; Beijing; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9967; RET; Simple; c.2608-125C>T; Zygosity=Heterozygous (PubMed=34087988).
Disease Congenital central hypoventilation (NCIt: C98889)
Ondine syndrome (ORDO: Orphanet_661)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y2M
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=34087988

Markers:
AmelogeninX,Y
CSF1PO11,13
D2S44111.3,12
D2S133818,23
D3S135815,18
D5S81812
D6S104313,19
D7S82011,12
D8S117910,15
D12S39118,20
D13S3179,12
D16S53911,12
D18S5113,17
D19S43314,15.2
D21S1130,32.2
FGA23
Penta D9
Penta E12,23
TH017,9
TPOX8
vWA16,18

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Publications

PubMed=34087988; DOI=10.1016/j.scr.2021.102359
Zhi-Fei Xu, Dan-Di Ma, Yun-Xiao Wu, Liang Wang, Yuan-Jie Zhang, Xin Ni;
Generation and characterization of iPSC lines (BCH001) from a boy with intron 14 mutation in the ret proto-oncogene (RET) gene.
Stem Cell Res. 53:102359-102359(2021)

Cross-references
Encyclopedic resources Wikidata; Q108819913
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number5