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Cellosaurus LCHi002-B (CVCL_A6XQ)

[Text version]
Cell line name LCHi002-B
Synonyms MLAR-005.04
Accession CVCL_A6XQ
Resource Identification Initiative To cite this cell line use: LCHi002-B (RRID:CVCL_A6XQ)
Comments From: Lurie Children's Hospital of Chicago; Chicago; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2962; DYNC2H1; Simple; p.Thr3836Ile (c.11507C>T); Zygosity=Heterozygous (PubMed=37413951).
  • Mutation; HGNC; HGNC:7983; NR5A1; Unexplicit; Ex3del and part of Ex4; Zygosity=Heterozygous (PubMed=37413951).
  • Mutation; HGNC; HGNC:8783; PDE4D; Simple; p.Gly93Ser (c.277G>A); Zygosity=Heterozygous (PubMed=37413951).
  • Mutation; HGNC; HGNC:16700; ZFPM2; Simple; p.Asn1087Ser (c.3260A>G); Zygosity=Heterozygous (PubMed=37413951).
Disease Sexual differentiation disorder (NCIt: C103186)
Disorder of sex development (ORDO: Orphanet_90771)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A6XP ! LCHi002-A
Sex of cell Male
Age at sampling 15-16Y
Category Induced pluripotent stem cell
Publications

PubMed=37413951; DOI=10.1016/j.scr.2023.103154
Siebert A.L., Schwartz G.B., Kubo H., Laronda M.M.
Induced pluripotent stem cell line generated from a patient with differences in sex development (DSD) and multiple genetic variants including a large deletion in NR5A1.
Stem Cell Res. 71:103154-103154(2023)

Cross-references
Cell line databases/resources hPSCreg; LCHi002-B
Encyclopedic resources Wikidata; Q107115622
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5